chr12:6845711:C>T Detail (hg38) (GNB3, CDCA3)

Information

Genome

Assembly Position
hg19 chr12:6,954,875-6,954,875 View the variant detail on this assembly version.
hg38 chr12:6,845,711-6,845,711

HGVS

Type Transcript Protein
RefSeq NM_001297603.1:c.*1077G>A
Ensemble ENST00000422785.7:c.*1077G>A
Type Transcript Protein
RefSeq NM_001297571.1:c.825C>T NP_001284500.1:p.Ser275=
NM_002075.3:c.825C>T NP_002066.1:p.Ser275=
Ensemble ENST00000229264.8:c.825C>T ENST00000229264.8:p.Ser275=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.486
ToMMo:0.504
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.526

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 607749 OMIM
HGNC 14624 HGNC
Ensembl ENSG00000111665 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv44834725 TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM 139130 OMIM
HGNC 4400 HGNC
Ensembl ENSG00000111664 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv44834725 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2024-01-31 criteria provided, multiple submitters, no conflicts not provided germline Detail
Benign 2021-08-10 criteria provided, single submitter congenital stationary night blindness 1H germline Detail
risk factor 2003-04-01 no assertion criteria provided Hypertension, essential, susceptibility to germline Detail
Benign 2003-04-01 no assertion criteria provided GNB3 POLYMORPHISM germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.239 Hypertensive disease We examined the associations of single nucleotide polymorphisms (SNPs) in three ... BeFree 19148102 Detail
0.203 Hypertensive disease We examined the associations of single nucleotide polymorphisms (SNPs) in three ... BeFree 19148102 Detail
0.321 Hypertensive disease In this study, 3 physiologically important candidate gene mutations (angiotensin... BeFree 10856280 Detail
0.239 Hypertensive disease In this study, 3 physiologically important candidate gene mutations (angiotensin... BeFree 10856280 Detail
0.440 Hypertensive disease In this study, 3 physiologically important candidate gene mutations (angiotensin... BeFree 10856280 Detail
0.007 Unipolar Depression To explore the possible relationship between six single nucleotide polymorphisms... BeFree 22480177 Detail
0.012 major depressive disorder To explore the possible relationship between six single nucleotide polymorphisms... BeFree 22480177 Detail
0.011 Unipolar Depression To explore the possible relationship between six single nucleotide polymorphisms... BeFree 22480177 Detail
0.155 major depressive disorder To explore the possible relationship between six single nucleotide polymorphisms... BeFree 22480177 Detail
0.009 Erectile dysfunction In an analysis of ED patients and their genotypes in the GNB3 C825T, the ACE I/D... BeFree 12825146 Detail
0.226 Erectile dysfunction In an analysis of ED patients and their genotypes in the GNB3 C825T, the ACE I/D... BeFree 12825146 Detail
0.020 Erectile dysfunction In an analysis of ED patients and their genotypes in the GNB3 C825T, the ACE I/D... BeFree 12825146 Detail
0.009 Metabolic syndrome X To assess the prevalence of IRS-1 Gly972Arg and GNB3 C825T polymorphisms in wome... BeFree 20170352 Detail
0.087 Metabolic syndrome X To assess the prevalence of IRS-1 Gly972Arg and GNB3 C825T polymorphisms in wome... BeFree 20170352 Detail
0.044 polycystic ovary syndrome To assess the prevalence of IRS-1 Gly972Arg and GNB3 C825T polymorphisms in wome... BeFree 20170352 Detail
0.003 polycystic ovary syndrome To assess the prevalence of IRS-1 Gly972Arg and GNB3 C825T polymorphisms in wome... BeFree 20170352 Detail
0.359 Hypertensive disease We assessed whether distributions of 3 single nucleotide polymorphisms in genes ... BeFree 23339167 Detail
0.239 Hypertensive disease We assessed whether distributions of 3 single nucleotide polymorphisms in genes ... BeFree 23339167 Detail
0.239 Hypertensive disease In addition to these polymorphisms, the T(-344)C polymorphism in the promoter of... BeFree 12924618 Detail
0.143 Hypertensive disease In addition to these polymorphisms, the T(-344)C polymorphism in the promoter of... BeFree 12924618 Detail
0.239 Hypertensive disease Our overall results suggest null association of α-adducin G460T and GNB3 C825T p... BeFree 21364877 Detail
0.239 Hypertensive disease The C825T dimorphism of the gene encoding the human G protein beta3 subunit (GNB... BeFree 12624279 Detail
0.128 essential hypertension Interaction between GNB3 C825T and ACE I/D polymorphisms in essential hypertensi... BeFree 17066084 Detail
0.009 Metabolic syndrome X The C825T polymorphism in the gene coding for the beta3 subunit of G proteins (G... BeFree 15033462 Detail
0.239 Hypertensive disease The C825T polymorphism of the G-protein β3 subunit gene and its association with... BeFree 23799054 Detail
0.005 Thyroid Neoplasm The C allele of the GNB3 C825T polymorphism of the G protein beta3-subunit is as... BeFree 17136758 Detail
0.007 Migraine Disorders The aim of the present observational study was to assess the value of the C825T ... BeFree 20488209 Detail
0.128 essential hypertension The 825T-allele of the C825T polymorphism in GNB3, the gene for the G protein be... BeFree 12730030 Detail
0.020 schizophrenia Suggestive association between the C825T polymorphism of the G-protein beta3 sub... BeFree 16139171 Detail
0.011 atherosclerosis The GNB3 C825T polymorphism may therefore be associated with many atherosclerosi... BeFree 15033462 Detail
0.013 irritable bowel syndrome [Candidate genes and sensory functions in health and irritable bowel syndrome.] GAD 18511740 Detail
0.003 gastroesophageal reflux disease Gastroesophageal reflux disease is associated with the C825T polymorphism in the... BeFree 19174793 Detail
<0.001 Chronic kidney disease stage 5 In this study we tested whether GNB3 C825T polymorphism, previously reported to ... BeFree 11684796 Detail
0.033 essential hypertension Interaction between GNB3 C825T and ACE I/D polymorphisms in essential hypertensi... BeFree 17066084 Detail
0.173 obesity The C825T variant of the G-protein beta3 subunit (GNB3) gene has attracted renew... BeFree 16707857 Detail
0.173 obesity The recently discovered C825T polymorphism of the G-protein beta 3 subunit has b... BeFree 12384823 Detail
0.008 Kidney Failure, Chronic In conclusion, in a sizeable number of pediatric renal transplant recipients the... BeFree 12000471 Detail
0.003 hyperuricemia The C825T variant of the G-protein beta3 subunit (GNB3) gene has attracted renew... BeFree 16707857 Detail
0.019 Cardiovascular Diseases The G protein β3 subunit C825T polymorphism is associated with microalbuminuria ... BeFree 20577224 Detail
<0.001 Hunger Hunger and mood during extended fasting are dependent on the GNB3 C825T polymorp... BeFree 19420911 Detail
0.007 Overweight In conclusion, this study indicated that the GNB3 C825T polymorphism is not a si... BeFree 14742836 Detail
0.002 Unipolar Depression The result suggests that C825T variants of GNB3 cannot play a major role as a pr... BeFree 18325652 Detail
0.033 essential hypertension GNB3 gene C825T and ACE gene I/D polymorphisms in essential hypertension in a Ka... BeFree 15042113 Detail
0.173 obesity The C825T polymorphism of the gene encoding the human G protein beta-3 subunit (... BeFree 25463071 Detail
0.128 essential hypertension Recently, a C825T polymorphism in the gene coding for the beta3 subunit of G pro... BeFree 12113397 Detail
0.006 Cerebrovascular accident The C825T polymorphism of the G-protein β3 subunit gene and its association with... BeFree 23799054 Detail
0.011 atherosclerosis The GNB3 C825T polymorphism has been shown to affect lipid parameters, atheroscl... BeFree 18551043 Detail
0.008 Kidney Failure, Chronic The results of our study suggest that GNB3 C825T polymorphism does not contribut... BeFree 11684796 Detail
0.003 Kidney Diseases The study provided evidence against the major impact of the GNB3 C825T polymorph... BeFree 10970984 Detail
0.014 major depressive disorder The result suggests that C825T variants of GNB3 cannot play a major role as a pr... BeFree 18325652 Detail
<0.001 prostate carcinoma G Protein β3 subunit gene C825T polymorphism and its association with the presen... BeFree 22608746 Detail
0.015 Migraine Disorders The aim of the present observational study was to assess the value of the C825T ... BeFree 20488209 Detail
0.173 obesity The C825T dimorphism of the gene encoding the human G protein beta3 subunit (GNB... BeFree 12624279 Detail
0.010 Mental Depression The GNB3 C825T polymorphism and depression among subjects with alcohol dependenc... BeFree 16897596 Detail
0.009 Erectile dysfunction G-protein β3 subunit gene 825C/T polymorphism and its association with the prese... BeFree 22985949 Detail
0.173 obesity The C825T polymorphism in the gene coding for the beta3 subunit of G proteins (G... BeFree 15033462 Detail
0.003 Kidney Diseases G-protein beta(3)-subunit C825T genotype and nephropathy in diabetes mellitus. BeFree 10978395 Detail
<0.001 Migraine Disorders The aim of the present observational study was to assess the value of the C825T ... BeFree 20488209 Detail
0.173 obesity The C825T splice variant of GNB3 makes little if any contribution to obesity in ... BeFree 11439289 Detail
0.009 Metabolic syndrome X Clinically silent adrenal adenomas - their relation to the metabolic syndrome an... BeFree 21979884 Detail
0.004 diabetes mellitus The associations of the C825T polymorphism (rs5443) of the G-protein beta3 subun... BeFree 18656447 Detail
0.004 depressive disorder The GNB3 C825T polymorphism and depression among subjects with alcohol dependenc... BeFree 16897596 Detail
<0.001 congestive heart failure We investigated whether the combination of beta(1)-Gly389Arg and GNB3 C825T, two... BeFree 20185488 Detail
0.019 myocardial infarction In 4159 Caucasian subjects from the Heinz Nixdorf Recall study cohort (age: 45-7... BeFree 25463071 Detail
0.239 Hypertensive disease A C825T polymorphism was identified in the gene encoding the G-protein beta3 sub... BeFree 15037876 Detail
<0.001 Headache The aim of the present observational study was to assess the value of the C825T ... BeFree 20488209 Detail
0.006 HIV Infections The GNB3 C825T polymorphism affects response to HCV therapy with pegylated inter... BeFree 17559964 Detail
0.128 essential hypertension GNB3 C825T and ACE I/D polymorphisms on the sodium-proton exchanger and the prev... BeFree 16314202 Detail
<0.001 Chronic kidney disease stage 5 In conclusion, in a sizeable number of pediatric renal transplant recipients the... BeFree 12000471 Detail
0.006 HIV Infections GNB3 C825T polymorphism and response to anti-retroviral combination therapy in H... BeFree 16354603 Detail
0.173 obesity Weight loss and body fat reduction under sibutramine therapy in obesity with the... BeFree 19687782 Detail
0.128 essential hypertension The GNB3 C825T polymorphism and essential hypertension: a meta-analysis of 34 st... BeFree 17278960 Detail
0.239 Hypertensive disease The GNB3 C825T polymorphism as a pharmacogenetic marker in the treatment of hype... BeFree 21709600 Detail
0.014 Dyspepsia On the other hand, the association between T allele of GNB3 C825T polymorphism a... BeFree 21443717 Detail
0.019 Cardiovascular Diseases Association between the G protein β3 subunit C825T polymorphism and the occurren... BeFree 20539277 Detail
0.006 Cerebrovascular accident The TT genotype of the C825T GNB3 gene polymorphism was found to be a significan... BeFree 23595158 Detail
0.005 hepatitis C GNB3 C825T polymorphism and response to interferon-alfa/ribavirin treatment in p... BeFree 16019105 Detail
<0.001 Hypertensive disease A common C825T polymorphism in the gene GNB3, which encodes the beta 3 subunit o... BeFree 15660499 Detail
0.019 myocardial infarction Effectiveness of statins in the reduction of the risk of myocardial infarction i... BeFree 18551043 Detail
0.239 Hypertensive disease A polymorphism (C825T) in the gene encoding the G protein beta3 subunit (GNB3) h... BeFree 12109775 Detail
0.128 essential hypertension We conclude that the 825C/T polymorphism of the GNB3 gene did not contribute in ... BeFree 10334807 Detail
0.002 arteriosclerosis The GNB3 C825T polymorphism may therefore be associated with many atherosclerosi... BeFree 15033462 Detail
0.002 Unipolar Depression Relationship between G-protein beta-3 subunit C825T polymorphism and mirtazapine... BeFree 17943025 Detail
0.239 Hypertensive disease A common C825T polymorphism in the gene GNB3, which encodes the beta 3 subunit o... BeFree 15660499 Detail
0.001 Headache The aim of the present observational study was to assess the value of the C825T ... BeFree 20488209 Detail
0.004 diabetes mellitus The C825T polymorphism in the gene coding for the beta3 subunit of G proteins (G... BeFree 15033462 Detail
0.004 depressive disorder The GNB3 C825T polymorphism as a pharmacogenetic marker in the treatment of hype... BeFree 21709600 Detail
<0.001 kidney failure The results of our study suggest that GNB3 C825T polymorphism does not contribut... BeFree 11684796 Detail
0.239 Hypertensive disease To examine the contribution of GNB3 polymorphisms to the development of hyperten... BeFree 15996174 Detail
<0.001 Transitional cell carcinoma of bladder Genotyping of the GNB3 C825T polymorphism was performed in 389 patients with tra... BeFree 16133558 Detail
0.005 adenoma Different genotype distribution of the GNB3 C825T polymorphism of the G protein ... BeFree 16178055 Detail
0.128 essential hypertension Association between the G-protein β3 subunit C825T polymorphism with essential h... BeFree 22714918 Detail
<0.001 Vascular Diseases Published studies have reported the associations of GNB3 C825T polymorphism with... BeFree 18783529 Detail
0.148 Diabetes Mellitus, Non-Insulin-Dependent G-Protein beta(3) subunit C825T variant, nephropathy and hypertension in patient... BeFree 10970984 Detail
0.128 essential hypertension C825T polymorphism of the G-protein β3 subunit and its association with essentia... BeFree 21532295 Detail
0.009 Erectile dysfunction The response to sildenafil is significantly associated with GNB3 C825T genotype ... BeFree 12576843 Detail
0.128 essential hypertension GNB3 gene C825T and ACE gene I/D polymorphisms in essential hypertension in a Ka... BeFree 15042113 Detail
0.005 adenoma Clinically silent adrenal adenomas - their relation to the metabolic syndrome an... BeFree 21979884 Detail
0.014 major depressive disorder Relationship between G-protein beta-3 subunit C825T polymorphism and mirtazapine... BeFree 17943025 Detail
<0.001 Hypertensive disease A common C825T polymorphism in the gene GNB3, which encodes the beta 3 subunit o... BeFree 15660499 Detail
0.128 essential hypertension The G-protein beta3 subunit (GNB3) C825T polymorphism was detected through a cla... BeFree 12530935 Detail
0.033 essential hypertension GNB3 C825T and ACE I/D polymorphisms on the sodium-proton exchanger and the prev... BeFree 16314202 Detail
0.009 Erectile dysfunction Our results failed to show a significant association of the GNB3 C825T polymorph... BeFree 18783529 Detail
0.009 Erectile dysfunction Genetic association study of the GNB3 C825T, the ACE I/D and the eNOS G894T poly... BeFree 20629643 Detail
0.005 seasonal affective disorder Seasonal affective disorder and the G-protein beta-3-subunit C825T polymorphism. BeFree 14744475 Detail
0.019 myocardial infarction C825T polymorphism in the G protein beta3 subunit gene (GNB3) has been associate... BeFree 10704626 Detail
0.004 depressive disorder A C825T polymorphism of a gene encoding the beta3 subunit of heterotrimeric G pr... BeFree 12075862 Detail
<0.001 Headache The aim of the present observational study was to assess the value of the C825T ... BeFree 20488209 Detail
<0.001 Endothelial dysfunction The aim of the study was to examine the association between the G protein β3 sub... BeFree 20577224 Detail
0.239 Hypertensive disease The C825T polymorphism in the gene coding for the beta3 subunit of G proteins (G... BeFree 15033462 Detail
0.261 Cardiovascular Diseases The genotypes in the GNB3 C825T, the ACE I/D and the eNOS G894T polymorphisms ha... BeFree 20629643 Detail
<0.001 Malignant neoplasm of prostate G Protein β3 subunit gene C825T polymorphism and its association with the presen... BeFree 22608746 Detail
0.128 essential hypertension Thus, the C825T polymorphism of the G protein beta(3)-subunit may help identify ... BeFree 11230366 Detail
0.173 obesity A polymorphism (C825T) in the gene encoding the G protein beta3 subunit (GNB3) h... BeFree 12109775 Detail
0.173 obesity The C825T polymorphism of the G-protein beta(3) subunit gene, known to be associ... BeFree 12668921 Detail
<0.001 Thyroid carcinoma Gain-of-function mutations in the TSH receptor and the Galpha(S) subunit occur f... BeFree 19772422 Detail
<0.001 Migraine Disorders The aim of the present observational study was to assess the value of the C825T ... BeFree 20488209 Detail
0.173 obesity The aim of the study was to examine the association between the G protein β3 sub... BeFree 20577224 Detail
0.239 Hypertensive disease The GNB3 C825T gene polymorphism has recently been identified and associated wit... BeFree 12566975 Detail
0.173 obesity Therefore our work does not provide evidence in favor of GNB3 C825T being a cand... BeFree 13679998 Detail
0.128 essential hypertension Case-control association analysis showed a significant association between EH an... BeFree 17785925 Detail
0.003 Alcoholic Intoxication, Chronic The GNB3 C825T polymorphism and depression among subjects with alcohol dependenc... BeFree 16897596 Detail
<0.001 Thyroid Gland Follicular Adenoma Carriers of the C allele of the common C825T polymorphism in the GNB3 gene of th... BeFree 17136758 Detail
0.128 essential hypertension The role of G protein β3 subunit polymorphisms C825T, C1429T, and G5177A in Turk... BeFree 21473734 Detail
0.013 irritable bowel syndrome We evaluated the association of the GNB3 C825T polymorphism with GERD and GERD s... BeFree 19174793 Detail
0.005 Mood Disorders The results reveal that it is not likely that the C825T polymorphism in the GNB3... BeFree 11586049 Detail
0.013 irritable bowel syndrome Whereas no specific gene has been identified in association with IBS, recent stu... BeFree 19034965 Detail
0.020 Erectile dysfunction Genetic association study of the GNB3 C825T, the ACE I/D and the eNOS G894T poly... BeFree 20629643 Detail
0.239 Hypertensive disease Therefore our work does not provide evidence in favor of GNB3 C825T being a cand... BeFree 13679998 Detail
<0.001 Headache The aim of the present observational study was to assess the value of the C825T ... BeFree 20488209 Detail
0.239 Hypertensive disease The aim of the study was to examine the association between the G protein β3 sub... BeFree 20577224 Detail
0.019 Cardiovascular Diseases The genotypes in the GNB3 C825T, the ACE I/D and the eNOS G894T polymorphisms ha... BeFree 20629643 Detail
0.017 Left Ventricular Hypertrophy The GNB3 C825T gene polymorphism has recently been identified and associated wit... BeFree 12566975 Detail
0.001 Diabetes The associations of the C825T polymorphism (rs5443) of the G-protein beta3 subun... BeFree 18656447 Detail
0.003 Heart failure We investigated whether the combination of beta(1)-Gly389Arg and GNB3 C825T, two... BeFree 20185488 Detail
0.004 diabetes mellitus G-protein beta(3)-subunit C825T genotype and nephropathy in diabetes mellitus. BeFree 10978395 Detail
0.239 Hypertensive disease In this study we tested whether GNB3 C825T polymorphism, previously reported to ... BeFree 11684796 Detail
0.006 HIV Infections The role of G protein gene GNB3 C825T polymorphism in HIV-1 acquisition, progres... BeFree 22214232 Detail
0.006 Vesico-Ureteral Reflux This result suggests that the C825T polymorphism of the GNB3 gene might be assoc... BeFree 15337465 Detail
0.010 Mental Depression The GNB3 C825T polymorphism as a pharmacogenetic marker in the treatment of hype... BeFree 21709600 Detail
<0.001 Microalbuminuria The G protein β3 subunit C825T polymorphism is associated with microalbuminuria ... BeFree 20577224 Detail
0.173 obesity Genotyping for the GNB3 C825T polymorphism is highly predictive for the identifi... BeFree 12893983 Detail
<0.001 Ichthyosis bullosa of Siemens Whereas no specific gene has been identified in association with IBS, recent stu... BeFree 19034965 Detail
0.002 Unipolar Depression We here report analysis of data from GENDEP, a part-randomized pharmacogenomic t... BeFree 20826553 Detail
0.239 Hypertensive disease A C825T polymorphism of a gene encoding the beta3 subunit of heterotrimeric G pr... BeFree 12075862 Detail
<0.001 Overweight and obesity To determine whether the C825T polymorphism of the G-protein beta3 subunit gene ... BeFree 11439289 Detail
0.173 obesity It has been reported that C825T variant in the gene encoding the G-protein subun... BeFree 18793692 Detail
0.007 bipolar disorder The variation of GNB3 C825T showed an association with higher plasma total chole... BeFree 20814328 Detail
0.009 Erectile dysfunction The C825T polymorphism in the G protein β3 subunit gene (GNB3) influences the ef... BeFree 24531084 Detail
0.239 Hypertensive disease The recently discovered C825T polymorphism of the G-protein beta 3 subunit has b... BeFree 12384823 Detail
0.239 Hypertensive disease The C825T polymorphism of the gene encoding the human G protein beta-3 subunit (... BeFree 25463071 Detail
0.239 Hypertensive disease The G-protein β 3(GNB3) C825T polymorphism has been linked with hypertension, sa... BeFree 21198262 Detail
0.128 essential hypertension The T allele of the G protein beta3 subunit (GNB3) C825T polymorphism has been a... BeFree 15200440 Detail
0.239 Hypertensive disease G-Protein beta(3) subunit C825T variant, nephropathy and hypertension in patient... BeFree 10970984 Detail
<0.001 Squamous cell carcinoma of the head and neck The GNB3 C825T SNP thus represents a host derived prognostic marker in HNSCC, wh... BeFree 18990763 Detail
0.239 Hypertensive disease C825T polymorphism in the G protein beta3 subunit gene (GNB3) has been associate... BeFree 10704626 Detail
0.002 arteriosclerosis The GNB3 C825T polymorphism has been shown to affect lipid parameters, atheroscl... BeFree 18551043 Detail
0.038 Migraine Disorders The aim of the present observational study was to assess the value of the C825T ... BeFree 20488209 Detail
<0.001 Thyroid carcinoma Different genotype distribution of the GNB3 C825T polymorphism of the G protein ... BeFree 16178055 Detail
<0.001 Headache The aim of the present observational study was to assess the value of the C825T ... BeFree 20488209 Detail
0.239 Hypertensive disease The polymorphism C825T of the gene encoding the G-protein beta 3-subunit (GNB3) ... BeFree 16487269 Detail
0.014 major depressive disorder We here report analysis of data from GENDEP, a part-randomized pharmacogenomic t... BeFree 20826553 Detail
<0.001 vitelliform macular dystrophy The 3-locus MDR model comprising FTO rs8050136C/A and GNB3 rs1129649T/C and rs54... BeFree 23691120 Detail
<0.001 vitelliform macular dystrophy The 3-locus MDR model comprising FTO rs8050136C/A and GNB3 rs1129649T/C and rs54... BeFree 23691120 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002075.4(GNB3):c.825C>T (p.Ser275=) AND not provided ClinVar Detail
NM_002075.4(GNB3):c.825C>T (p.Ser275=) AND Congenital stationary night blindness 1H ClinVar Detail
NM_002075.4(GNB3):c.825C>T (p.Ser275=) AND Hypertension, essential, susceptibility to ClinVar Detail
NM_002075.4(GNB3):c.825C>T (p.Ser275=) AND GNB3 POLYMORPHISM ClinVar Detail
We examined the associations of single nucleotide polymorphisms (SNPs) in three candidate hypertensi... DisGeNET Detail
We examined the associations of single nucleotide polymorphisms (SNPs) in three candidate hypertensi... DisGeNET Detail
In this study, 3 physiologically important candidate gene mutations (angiotensinogen A[-6], alpha-Ad... DisGeNET Detail
In this study, 3 physiologically important candidate gene mutations (angiotensinogen A[-6], alpha-Ad... DisGeNET Detail
In this study, 3 physiologically important candidate gene mutations (angiotensinogen A[-6], alpha-Ad... DisGeNET Detail
To explore the possible relationship between six single nucleotide polymorphisms (SNPs) (rs6311 and ... DisGeNET Detail
To explore the possible relationship between six single nucleotide polymorphisms (SNPs) (rs6311 and ... DisGeNET Detail
To explore the possible relationship between six single nucleotide polymorphisms (SNPs) (rs6311 and ... DisGeNET Detail
To explore the possible relationship between six single nucleotide polymorphisms (SNPs) (rs6311 and ... DisGeNET Detail
In an analysis of ED patients and their genotypes in the GNB3 C825T, the ACE I/D and the NOS3 G894T ... DisGeNET Detail
In an analysis of ED patients and their genotypes in the GNB3 C825T, the ACE I/D and the NOS3 G894T ... DisGeNET Detail
In an analysis of ED patients and their genotypes in the GNB3 C825T, the ACE I/D and the NOS3 G894T ... DisGeNET Detail
To assess the prevalence of IRS-1 Gly972Arg and GNB3 C825T polymorphisms in women with polycystic ov... DisGeNET Detail
To assess the prevalence of IRS-1 Gly972Arg and GNB3 C825T polymorphisms in women with polycystic ov... DisGeNET Detail
To assess the prevalence of IRS-1 Gly972Arg and GNB3 C825T polymorphisms in women with polycystic ov... DisGeNET Detail
To assess the prevalence of IRS-1 Gly972Arg and GNB3 C825T polymorphisms in women with polycystic ov... DisGeNET Detail
We assessed whether distributions of 3 single nucleotide polymorphisms in genes coding for component... DisGeNET Detail
We assessed whether distributions of 3 single nucleotide polymorphisms in genes coding for component... DisGeNET Detail
In addition to these polymorphisms, the T(-344)C polymorphism in the promoter of the aldosterone syn... DisGeNET Detail
In addition to these polymorphisms, the T(-344)C polymorphism in the promoter of the aldosterone syn... DisGeNET Detail
Our overall results suggest null association of α-adducin G460T and GNB3 C825T polymorphisms with hy... DisGeNET Detail
The C825T dimorphism of the gene encoding the human G protein beta3 subunit (GNB3) is associated wit... DisGeNET Detail
Interaction between GNB3 C825T and ACE I/D polymorphisms in essential hypertension in Koreans. DisGeNET Detail
The C825T polymorphism in the gene coding for the beta3 subunit of G proteins (GNB3) has been shown ... DisGeNET Detail
The C825T polymorphism of the G-protein β3 subunit gene and its association with hypertension and st... DisGeNET Detail
The C allele of the GNB3 C825T polymorphism of the G protein beta3-subunit is associated with an inc... DisGeNET Detail
The aim of the present observational study was to assess the value of the C825T polymorphism of the ... DisGeNET Detail
The 825T-allele of the C825T polymorphism in GNB3, the gene for the G protein beta3 subunit, has bee... DisGeNET Detail
Suggestive association between the C825T polymorphism of the G-protein beta3 subunit gene (GNB3) and... DisGeNET Detail
The GNB3 C825T polymorphism may therefore be associated with many atherosclerosis-related phenotypes... DisGeNET Detail
[Candidate genes and sensory functions in health and irritable bowel syndrome.] DisGeNET Detail
Gastroesophageal reflux disease is associated with the C825T polymorphism in the G-protein beta3 sub... DisGeNET Detail
In this study we tested whether GNB3 C825T polymorphism, previously reported to be associated with h... DisGeNET Detail
Interaction between GNB3 C825T and ACE I/D polymorphisms in essential hypertension in Koreans. DisGeNET Detail
The C825T variant of the G-protein beta3 subunit (GNB3) gene has attracted renewed attention as a ca... DisGeNET Detail
The recently discovered C825T polymorphism of the G-protein beta 3 subunit has been reported to be a... DisGeNET Detail
In conclusion, in a sizeable number of pediatric renal transplant recipients the GNB3 C825T polymorp... DisGeNET Detail
The C825T variant of the G-protein beta3 subunit (GNB3) gene has attracted renewed attention as a ca... DisGeNET Detail
The G protein β3 subunit C825T polymorphism is associated with microalbuminuria in hypertensive wome... DisGeNET Detail
Hunger and mood during extended fasting are dependent on the GNB3 C825T polymorphism. DisGeNET Detail
In conclusion, this study indicated that the GNB3 C825T polymorphism is not a significant factor for... DisGeNET Detail
The result suggests that C825T variants of GNB3 cannot play a major role as a predictor of treatment... DisGeNET Detail
GNB3 gene C825T and ACE gene I/D polymorphisms in essential hypertension in a Kazakh genetic isolate... DisGeNET Detail
The C825T polymorphism of the gene encoding the human G protein beta-3 subunit (GNB3) is associated ... DisGeNET Detail
Recently, a C825T polymorphism in the gene coding for the beta3 subunit of G proteins (GNB3) has bee... DisGeNET Detail
The C825T polymorphism of the G-protein β3 subunit gene and its association with hypertension and st... DisGeNET Detail
The GNB3 C825T polymorphism has been shown to affect lipid parameters, atherosclerosis progression, ... DisGeNET Detail
The results of our study suggest that GNB3 C825T polymorphism does not contribute substantially to t... DisGeNET Detail
The study provided evidence against the major impact of the GNB3 C825T polymorphism on the increased... DisGeNET Detail
The result suggests that C825T variants of GNB3 cannot play a major role as a predictor of treatment... DisGeNET Detail
G Protein β3 subunit gene C825T polymorphism and its association with the presence and clinicopathol... DisGeNET Detail
The aim of the present observational study was to assess the value of the C825T polymorphism of the ... DisGeNET Detail
The C825T dimorphism of the gene encoding the human G protein beta3 subunit (GNB3) is associated wit... DisGeNET Detail
The GNB3 C825T polymorphism and depression among subjects with alcohol dependence. DisGeNET Detail
G-protein β3 subunit gene 825C/T polymorphism and its association with the presence, severity, and d... DisGeNET Detail
The C825T polymorphism in the gene coding for the beta3 subunit of G proteins (GNB3) has been shown ... DisGeNET Detail
G-protein beta(3)-subunit C825T genotype and nephropathy in diabetes mellitus. DisGeNET Detail
The aim of the present observational study was to assess the value of the C825T polymorphism of the ... DisGeNET Detail
The C825T splice variant of GNB3 makes little if any contribution to obesity in the groups we tested... DisGeNET Detail
Clinically silent adrenal adenomas - their relation to the metabolic syndrome and to GNB3 C825T gene... DisGeNET Detail
The associations of the C825T polymorphism (rs5443) of the G-protein beta3 subunit (GNB3) gene and e... DisGeNET Detail
The GNB3 C825T polymorphism and depression among subjects with alcohol dependence. DisGeNET Detail
We investigated whether the combination of beta(1)-Gly389Arg and GNB3 C825T, two genetic polymorphis... DisGeNET Detail
In 4159 Caucasian subjects from the Heinz Nixdorf Recall study cohort (age: 45-75 years, 48% male), ... DisGeNET Detail
A C825T polymorphism was identified in the gene encoding the G-protein beta3 subunit (GNB3), and an ... DisGeNET Detail
The aim of the present observational study was to assess the value of the C825T polymorphism of the ... DisGeNET Detail
The GNB3 C825T polymorphism affects response to HCV therapy with pegylated interferon in HCV/HIV co-... DisGeNET Detail
GNB3 C825T and ACE I/D polymorphisms on the sodium-proton exchanger and the prevalence of essential ... DisGeNET Detail
In conclusion, in a sizeable number of pediatric renal transplant recipients the GNB3 C825T polymorp... DisGeNET Detail
GNB3 C825T polymorphism and response to anti-retroviral combination therapy in HIV-1-infected patien... DisGeNET Detail
Weight loss and body fat reduction under sibutramine therapy in obesity with the C825T polymorphism ... DisGeNET Detail
The GNB3 C825T polymorphism and essential hypertension: a meta-analysis of 34 studies including 14,0... DisGeNET Detail
The GNB3 C825T polymorphism as a pharmacogenetic marker in the treatment of hypertension, obesity, a... DisGeNET Detail
On the other hand, the association between T allele of GNB3 C825T polymorphism and dyspepsia was rep... DisGeNET Detail
Association between the G protein β3 subunit C825T polymorphism and the occurrence of cardiovascular... DisGeNET Detail
The TT genotype of the C825T GNB3 gene polymorphism was found to be a significant risk factor for th... DisGeNET Detail
GNB3 C825T polymorphism and response to interferon-alfa/ribavirin treatment in patients with hepatit... DisGeNET Detail
A common C825T polymorphism in the gene GNB3, which encodes the beta 3 subunit of heterotrimeric G p... DisGeNET Detail
Effectiveness of statins in the reduction of the risk of myocardial infarction is modified by the GN... DisGeNET Detail
A polymorphism (C825T) in the gene encoding the G protein beta3 subunit (GNB3) has recently been ass... DisGeNET Detail
We conclude that the 825C/T polymorphism of the GNB3 gene did not contribute in any important way to... DisGeNET Detail
The GNB3 C825T polymorphism may therefore be associated with many atherosclerosis-related phenotypes... DisGeNET Detail
Relationship between G-protein beta-3 subunit C825T polymorphism and mirtazapine responses in Korean... DisGeNET Detail
A common C825T polymorphism in the gene GNB3, which encodes the beta 3 subunit of heterotrimeric G p... DisGeNET Detail
The aim of the present observational study was to assess the value of the C825T polymorphism of the ... DisGeNET Detail
The C825T polymorphism in the gene coding for the beta3 subunit of G proteins (GNB3) has been shown ... DisGeNET Detail
The GNB3 C825T polymorphism as a pharmacogenetic marker in the treatment of hypertension, obesity, a... DisGeNET Detail
The results of our study suggest that GNB3 C825T polymorphism does not contribute substantially to t... DisGeNET Detail
To examine the contribution of GNB3 polymorphisms to the development of hypertension in the northern... DisGeNET Detail
Genotyping of the GNB3 C825T polymorphism was performed in 389 patients with transitional cell carci... DisGeNET Detail
Different genotype distribution of the GNB3 C825T polymorphism of the G protein beta3 subunit in ade... DisGeNET Detail
Association between the G-protein β3 subunit C825T polymorphism with essential hypertension: a meta-... DisGeNET Detail
Published studies have reported the associations of GNB3 C825T polymorphism with many vascular disea... DisGeNET Detail
G-Protein beta(3) subunit C825T variant, nephropathy and hypertension in patients with type 2 (Non-i... DisGeNET Detail
C825T polymorphism of the G-protein β3 subunit and its association with essential hypertension in Uz... DisGeNET Detail
The response to sildenafil is significantly associated with GNB3 C825T genotype status in patients w... DisGeNET Detail
GNB3 gene C825T and ACE gene I/D polymorphisms in essential hypertension in a Kazakh genetic isolate... DisGeNET Detail
Clinically silent adrenal adenomas - their relation to the metabolic syndrome and to GNB3 C825T gene... DisGeNET Detail
Relationship between G-protein beta-3 subunit C825T polymorphism and mirtazapine responses in Korean... DisGeNET Detail
A common C825T polymorphism in the gene GNB3, which encodes the beta 3 subunit of heterotrimeric G p... DisGeNET Detail
The G-protein beta3 subunit (GNB3) C825T polymorphism was detected through a classical candidate gen... DisGeNET Detail
GNB3 C825T and ACE I/D polymorphisms on the sodium-proton exchanger and the prevalence of essential ... DisGeNET Detail
Our results failed to show a significant association of the GNB3 C825T polymorphisms with ED prevale... DisGeNET Detail
Genetic association study of the GNB3 C825T, the ACE I/D and the eNOS G894T polymorphisms and the ri... DisGeNET Detail
Seasonal affective disorder and the G-protein beta-3-subunit C825T polymorphism. DisGeNET Detail
C825T polymorphism in the G protein beta3 subunit gene (GNB3) has been associated with arterial hype... DisGeNET Detail
A C825T polymorphism of a gene encoding the beta3 subunit of heterotrimeric G proteins (GNB3) was re... DisGeNET Detail
The aim of the present observational study was to assess the value of the C825T polymorphism of the ... DisGeNET Detail
The aim of the study was to examine the association between the G protein β3 subunit C825T polymorph... DisGeNET Detail
The C825T polymorphism in the gene coding for the beta3 subunit of G proteins (GNB3) has been shown ... DisGeNET Detail
The genotypes in the GNB3 C825T, the ACE I/D and the eNOS G894T polymorphisms have been identified a... DisGeNET Detail
G Protein β3 subunit gene C825T polymorphism and its association with the presence and clinicopathol... DisGeNET Detail
Thus, the C825T polymorphism of the G protein beta(3)-subunit may help identify patients with essent... DisGeNET Detail
A polymorphism (C825T) in the gene encoding the G protein beta3 subunit (GNB3) has recently been ass... DisGeNET Detail
The C825T polymorphism of the G-protein beta(3) subunit gene, known to be associated with obesity, i... DisGeNET Detail
Gain-of-function mutations in the TSH receptor and the Galpha(S) subunit occur frequently in hyperfu... DisGeNET Detail
The aim of the present observational study was to assess the value of the C825T polymorphism of the ... DisGeNET Detail
The aim of the study was to examine the association between the G protein β3 subunit C825T polymorph... DisGeNET Detail
The GNB3 C825T gene polymorphism has recently been identified and associated with hypertension, obes... DisGeNET Detail
Therefore our work does not provide evidence in favor of GNB3 C825T being a candidate gene for confe... DisGeNET Detail
Case-control association analysis showed a significant association between EH and both the ALDH2 (Ly... DisGeNET Detail
The GNB3 C825T polymorphism and depression among subjects with alcohol dependence. DisGeNET Detail
Carriers of the C allele of the common C825T polymorphism in the GNB3 gene of the G protein have bee... DisGeNET Detail
The role of G protein β3 subunit polymorphisms C825T, C1429T, and G5177A in Turkish subjects with es... DisGeNET Detail
We evaluated the association of the GNB3 C825T polymorphism with GERD and GERD subgroups classified ... DisGeNET Detail
The results reveal that it is not likely that the C825T polymorphism in the GNB3 gene subunit is inv... DisGeNET Detail
Whereas no specific gene has been identified in association with IBS, recent studies have noticed th... DisGeNET Detail
Genetic association study of the GNB3 C825T, the ACE I/D and the eNOS G894T polymorphisms and the ri... DisGeNET Detail
Therefore our work does not provide evidence in favor of GNB3 C825T being a candidate gene for confe... DisGeNET Detail
The aim of the present observational study was to assess the value of the C825T polymorphism of the ... DisGeNET Detail
The aim of the study was to examine the association between the G protein β3 subunit C825T polymorph... DisGeNET Detail
The genotypes in the GNB3 C825T, the ACE I/D and the eNOS G894T polymorphisms have been identified a... DisGeNET Detail
The GNB3 C825T gene polymorphism has recently been identified and associated with hypertension, obes... DisGeNET Detail
The associations of the C825T polymorphism (rs5443) of the G-protein beta3 subunit (GNB3) gene and e... DisGeNET Detail
We investigated whether the combination of beta(1)-Gly389Arg and GNB3 C825T, two genetic polymorphis... DisGeNET Detail
G-protein beta(3)-subunit C825T genotype and nephropathy in diabetes mellitus. DisGeNET Detail
In this study we tested whether GNB3 C825T polymorphism, previously reported to be associated with h... DisGeNET Detail
The role of G protein gene GNB3 C825T polymorphism in HIV-1 acquisition, progression and immune acti... DisGeNET Detail
This result suggests that the C825T polymorphism of the GNB3 gene might be associated with the devel... DisGeNET Detail
The GNB3 C825T polymorphism as a pharmacogenetic marker in the treatment of hypertension, obesity, a... DisGeNET Detail
The G protein β3 subunit C825T polymorphism is associated with microalbuminuria in hypertensive wome... DisGeNET Detail
Genotyping for the GNB3 C825T polymorphism is highly predictive for the identification of obese indi... DisGeNET Detail
Whereas no specific gene has been identified in association with IBS, recent studies have noticed th... DisGeNET Detail
We here report analysis of data from GENDEP, a part-randomized pharmacogenomic trial, on the outcome... DisGeNET Detail
A C825T polymorphism of a gene encoding the beta3 subunit of heterotrimeric G proteins (GNB3) was re... DisGeNET Detail
To determine whether the C825T polymorphism of the G-protein beta3 subunit gene (GNB3) is associated... DisGeNET Detail
It has been reported that C825T variant in the gene encoding the G-protein subunit beta3 (GNB3) is a... DisGeNET Detail
The variation of GNB3 C825T showed an association with higher plasma total cholesterol (P = 0.037), ... DisGeNET Detail
The C825T polymorphism in the G protein β3 subunit gene (GNB3) influences the efficacy of sildenafil... DisGeNET Detail
The recently discovered C825T polymorphism of the G-protein beta 3 subunit has been reported to be a... DisGeNET Detail
The C825T polymorphism of the gene encoding the human G protein beta-3 subunit (GNB3) is associated ... DisGeNET Detail
The G-protein β 3(GNB3) C825T polymorphism has been linked with hypertension, salt sensitivity and m... DisGeNET Detail
The T allele of the G protein beta3 subunit (GNB3) C825T polymorphism has been associated with incre... DisGeNET Detail
G-Protein beta(3) subunit C825T variant, nephropathy and hypertension in patients with type 2 (Non-i... DisGeNET Detail
The GNB3 C825T SNP thus represents a host derived prognostic marker in HNSCC, which allows identifyi... DisGeNET Detail
C825T polymorphism in the G protein beta3 subunit gene (GNB3) has been associated with arterial hype... DisGeNET Detail
The GNB3 C825T polymorphism has been shown to affect lipid parameters, atherosclerosis progression, ... DisGeNET Detail
The aim of the present observational study was to assess the value of the C825T polymorphism of the ... DisGeNET Detail
Different genotype distribution of the GNB3 C825T polymorphism of the G protein beta3 subunit in ade... DisGeNET Detail
The aim of the present observational study was to assess the value of the C825T polymorphism of the ... DisGeNET Detail
The polymorphism C825T of the gene encoding the G-protein beta 3-subunit (GNB3) was found to be asso... DisGeNET Detail
We here report analysis of data from GENDEP, a part-randomized pharmacogenomic trial, on the outcome... DisGeNET Detail
The 3-locus MDR model comprising FTO rs8050136C/A and GNB3 rs1129649T/C and rs5443C/T emerged as the... DisGeNET Detail
The 3-locus MDR model comprising FTO rs8050136C/A and GNB3 rs1129649T/C and rs5443C/T emerged as the... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs5443 dbSNP
Genome
hg38
Position
chr12:6,845,711-6,845,711
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1209
Mean of sample read depth (HGVD)
121.98
Standard deviation of sample read depth (HGVD)
59.20
Number of reference allele (HGVD)
1243
Number of alternative allele (HGVD)
1175
Allele Frequency (HGVD)
0.48593879239040527
Gene Symbol (HGVD)
GNB3
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs5443
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5039
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8445
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
8606
East Asian Allele Counts (ExAC)
4523
East Asian Heterozygous Counts (ExAC)
2207
East Asian Homozygous Counts (ExAC)
1158
East Asian Allele Frequency (ExAC)
0.5255635603067628
Chromosome Counts in All Race (ExAC)
121276
Allele Counts in All Race (ExAC)
43631
Heterozygous Counts in All Race (ExAC)
25709
Homozygous Counts in All Race (ExAC)
8961
Allele Frequency in All Race (ExAC)
0.359766153237244
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