chr2:226795828:C>T Detail (hg38) (IRS1)

Information

Genome

Assembly Position
hg19 chr2:227,660,544-227,660,544 View the variant detail on this assembly version.
hg38 chr2:226,795,828-226,795,828

HGVS

Type Transcript Protein
RefSeq NM_005544.2:c.2911G>A NP_005535.1:p.Gly971Arg
Ensemble ENST00000305123.6:c.2911G>A ENST00000305123.6:p.Gly971Arg
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.026
ToMMo:0.028
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.015

Prediction

ClinVar

Clinical Significance risk factor
Review star
Show details
Links
Type Database ID Link
Gene MIM 147545 OMIM
HGNC 6125 HGNC
Ensembl ENSG00000169047 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv10735417 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
risk factor 2004-07-01 no assertion criteria provided Insulin resistance, susceptibility to germline Detail
risk factor 2004-07-01 no assertion criteria provided Coronary artery disease, susceptibility to germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Cardiovascular Diseases We investigated the combined role of single nucleotide polymorphisms (SNPs) affe... BeFree 23107043 Detail
0.022 Malignant neoplasm of breast Seven single nucleotide polymorphisms (SNPs) (rs3856806 in PPARG, rs7014346 in P... BeFree 24338422 Detail
0.008 breast carcinoma Seven single nucleotide polymorphisms (SNPs) (rs3856806 in PPARG, rs7014346 in P... BeFree 24338422 Detail
0.129 diabetes mellitus The allele frequencies of the Gly972Arg variant of the insulin receptor substrat... BeFree 10480621 Detail
0.006 Diabetes The allele frequencies of the Gly972Arg variant of the insulin receptor substrat... BeFree 10480621 Detail
0.002 Diabetes The allele frequencies of the Gly972Arg variant of the insulin receptor substrat... BeFree 10480621 Detail
0.002 diabetes mellitus The allele frequencies of the Gly972Arg variant of the insulin receptor substrat... BeFree 10480621 Detail
0.089 Diabetes Mellitus, Non-Insulin-Dependent In addition, we screened other reported T2D-associated polymorphisms: PIK3R1 rs3... BeFree 23133645 Detail
0.087 Metabolic syndrome X The polymorphisms PstI and MaeIII of INS, NsiI of INSR and Ala513Pro and Gly972A... BeFree 18716398 Detail
0.167 Metabolic syndrome X The polymorphisms PstI and MaeIII of INS, NsiI of INSR and Ala513Pro and Gly972A... BeFree 18716398 Detail
<0.001 Metabolic syndrome X The polymorphisms PstI and MaeIII of INS, NsiI of INSR and Ala513Pro and Gly972A... BeFree 18716398 Detail
0.044 polycystic ovary syndrome Abnormal glucose tolerance and insulin resistance in polycystic ovary syndrome a... BeFree 16603055 Detail
0.120 Insulin resistance, susceptibility to NA CLINVAR Detail
0.014 gestational diabetes Thus, our data suggest that the common T2D susceptibility polymorphism of TCF7L2... BeFree 20540670 Detail
0.019 Malignant neoplasm of breast The IRS1 Gly972Arg single-nucleotide polymorphism, which affects insulin-like gr... BeFree 22729394 Detail
0.008 Diabetes Mellitus, Insulin-Dependent We were unable to confirm a recently published association of the IRS1 Gly972Arg... BeFree 14988278 Detail
0.627 Diabetes Mellitus, Non-Insulin-Dependent We replicated the significant association of rs1801278 and rs3792267 SNPs of the... BeFree 24612564 Detail
0.080 breast carcinoma The IRS1 Gly972Arg single-nucleotide polymorphism, which affects insulin-like gr... BeFree 22729394 Detail
0.627 Diabetes Mellitus, Non-Insulin-Dependent The study on the relationship between IRS-1 Gly972Arg and IRS-2 Gly1057Asp polym... BeFree 22994406 Detail
0.234 Hypertensive disease This population has shown a high prevalence of type 2 diabetes mellitus, and the... BeFree 15581831 Detail
0.006 Diabetes The most common single-nucleotide polymorphism in the insulin receptor substrate... BeFree 25214251 Detail
0.374 Diabetes Mellitus, Non-Insulin-Dependent This population has shown a high prevalence of type 2 diabetes mellitus, and the... BeFree 15581831 Detail
0.008 Malignant neoplasm of prostate Insulin receptor H1085H C&gt;T and insulin receptor substrate 1 G972R polymorphi... BeFree 21204696 Detail
0.005 gestational diabetes Analysis of the IRS1 G972R polymorphism showed that RR homozygosity was found ex... BeFree 16320083 Detail
<0.001 Rectal Carcinoma Data from 2 population-based case-control studies of colon and rectal cancer con... BeFree 15688407 Detail
0.120 Coronary artery disease, susceptibility to NA CLINVAR Detail
<0.001 Rectal Carcinoma Data from 2 population-based case-control studies of colon and rectal cancer con... BeFree 15688407 Detail
0.614 Diabetes Mellitus, Non-Insulin-Dependent Thus, our data suggest that the common T2D susceptibility polymorphism of TCF7L2... BeFree 20540670 Detail
0.004 Diabetes Mellitus, Non-Insulin-Dependent The aim of our study was to investigate whether common polymorphisms in the gene... BeFree 15127203 Detail
0.079 Diabetes Mellitus, Non-Insulin-Dependent We studied possible relations between GDM and both insulin receptor substrate 1 ... BeFree 17046546 Detail
0.006 Diabetes Also, the diagnostic test to exclude diabetes amongst control subjects interacte... BeFree 12819898 Detail
0.008 Hypertensive disease This population has shown a high prevalence of type 2 diabetes mellitus, and the... BeFree 15581831 Detail
0.129 diabetes mellitus Proliferator-activated receptor gamma Pro12Ala interacts with the insulin recept... BeFree 24447396 Detail
0.003 gestational diabetes We studied possible relations between GDM and both insulin receptor substrate 1 ... BeFree 17046546 Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent We have genotyped three single nucleotide polymorphisms associated with type 2 d... BeFree 14988278 Detail
0.003 Ovarian Diseases Our meta-analysis suggested that IRS-1 Gly972Arg polymorphism might be considere... BeFree 22523112 Detail
0.627 Diabetes Mellitus, Non-Insulin-Dependent Association testing in 9,000 people fails to confirm the association of the insu... BeFree 15561965 Detail
0.162 polycystic ovary syndrome Insulin secretion in women who have polycystic ovary syndrome and carry the Gly9... BeFree 15474880 Detail
0.374 Diabetes Mellitus, Non-Insulin-Dependent The aim of our study was to investigate whether common polymorphisms in the gene... BeFree 15127203 Detail
0.002 prostate carcinoma Insulin receptor H1085H C&gt;T and insulin receptor substrate 1 G972R polymorphi... BeFree 21204696 Detail
0.003 Precocious pubarche Increased frequency of the G972R variant of the insulin receptor substrate-1 (ir... BeFree 12477526 Detail
0.360 Malignant neoplasm of breast The IRS1 Gly972Arg single-nucleotide polymorphism, which affects insulin-like gr... BeFree 22729394 Detail
<0.001 Rectal Carcinoma Data from 2 population-based case-control studies of colon and rectal cancer con... BeFree 15688407 Detail
0.001 Diabetes Mellitus, Non-Insulin-Dependent Polymorphisms in the genes encoding the insulin receptor substrate (IRS) protein... BeFree 12213887 Detail
0.627 Diabetes Mellitus, Non-Insulin-Dependent The IRS1 G972R polymorphism and glomerular filtration rate in patients with type... BeFree 24071662 Detail
0.005 Diabetes The aim of our study was to investigate whether common polymorphisms in the gene... BeFree 15127203 Detail
0.401 Diabetes Mellitus, Non-Insulin-Dependent This population has shown a high prevalence of type 2 diabetes mellitus, and the... BeFree 15581831 Detail
0.627 Diabetes Mellitus, Non-Insulin-Dependent In this Review, we discuss the role of relatively infrequent polymorphisms of ge... BeFree 19924153 Detail
0.627 Diabetes Mellitus, Non-Insulin-Dependent This population has shown a high prevalence of type 2 diabetes mellitus, and the... BeFree 15581831 Detail
<0.001 Rectal Carcinoma Data from 2 population-based case-control studies of colon and rectal cancer con... BeFree 15688407 Detail
0.080 breast carcinoma The IRS1 Gly972Arg single-nucleotide polymorphism, which affects insulin-like gr... BeFree 22729394 Detail
0.044 polycystic ovary syndrome Role of allelic variants Gly972Arg of IRS-1 and Gly1057Asp of IRS-2 in moderate-... BeFree 11522686 Detail
0.009 breast carcinoma An association between a common variant (G972R) in the IRS-1 gene and sex hormon... BeFree 16752222 Detail
0.218 obesity Patients with IRS-1 G972R were more obese at the beginning of pregnancy, had hig... BeFree 16522427 Detail
0.003 Diabetes Mellitus, Non-Insulin-Dependent By using a Cox proportional hazard model, common variants in the PPARG (P12A), C... BeFree 17570749 Detail
0.627 Diabetes Mellitus, Non-Insulin-Dependent IRS1 G972R polymorphism and type 2 diabetes: a paradigm for the difficult ascert... BeFree 19557384 Detail
0.019 Malignant neoplasm of breast An association between a common variant (G972R) in the IRS-1 gene and sex hormon... BeFree 16752222 Detail
0.003 Ovarian Diseases These results suggest that IRS-1 Gly972Arg polymorphism is significantly associa... BeFree 19926323 Detail
<0.001 Diabetes The aim of our study was to investigate whether common polymorphisms in the gene... BeFree 15127203 Detail
0.088 Diabetes Mellitus, Non-Insulin-Dependent The aim of our study was to investigate whether common polymorphisms in the gene... BeFree 15127203 Detail
0.401 Diabetes Mellitus, Non-Insulin-Dependent Polymorphisms in the genes encoding the insulin receptor substrate (IRS) protein... BeFree 12213887 Detail
0.155 21-hydroxylase deficiency The study involved a monogenic analysis of CYP21A2 in patients (375 nonclassical... BeFree 19039234 Detail
0.020 Ovarian Diseases These results suggest that IRS-1 Gly972Arg polymorphism is significantly associa... BeFree 19926323 Detail
0.003 Hypertensive disease This population has shown a high prevalence of type 2 diabetes mellitus, and the... BeFree 15581831 Detail
0.627 Diabetes Mellitus, Non-Insulin-Dependent Polymorphisms in the genes encoding the insulin receptor substrate (IRS) protein... BeFree 12213887 Detail
0.627 Diabetes Mellitus, Non-Insulin-Dependent No association between the Gly971Arg variant of the insulin receptor substrate 1... BeFree 8732707 Detail
0.008 Malignant neoplasm of prostate Prostate cancer risk and IRS1, IRS2, IGF1, and INS polymorphisms: strong associa... BeFree 15678496 Detail
0.011 polycystic ovary syndrome Role of allelic variants Gly972Arg of IRS-1 and Gly1057Asp of IRS-2 in moderate-... BeFree 11522686 Detail
0.627 Diabetes Mellitus, Non-Insulin-Dependent The most commonly detected polymorphism in human insulin receptor substrate-1 (I... BeFree 15590636 Detail
0.002 Diabetes Mellitus, Non-Insulin-Dependent The aim of our study was to investigate whether common polymorphisms in the gene... BeFree 15127203 Detail
0.627 Diabetes Mellitus, Non-Insulin-Dependent Thus, our data suggest that the common T2D susceptibility polymorphism of TCF7L2... BeFree 20540670 Detail
0.401 Diabetes Mellitus, Non-Insulin-Dependent The peroxisome proliferator-activated receptor gamma (PPARG), Pro12Ala and the i... BeFree 24447396 Detail
0.129 diabetes mellitus Also, the diagnostic test to exclude diabetes amongst control subjects interacte... BeFree 12819898 Detail
0.274 Diabetes Mellitus, Non-Insulin-Dependent By using a Cox proportional hazard model, common variants in the PPARG (P12A), C... BeFree 17570749 Detail
0.001 Carcinogenesis Further studies, either with larger sample size or involving other single nucleo... BeFree 24696264 Detail
0.218 obesity The G972R variant of the insulin receptor substrate-1 (IRS-1) gene is associated... BeFree 15636429 Detail
0.045 breast carcinoma The IRS1 Gly972Arg single-nucleotide polymorphism, which affects insulin-like gr... BeFree 22729394 Detail
0.017 Hypertensive disease This population has shown a high prevalence of type 2 diabetes mellitus, and the... BeFree 15581831 Detail
<0.001 essential hypertension The aim of this study was to assess the association between G972R polymorphism o... BeFree 21677657 Detail
0.129 diabetes mellitus Subjects with at least 1 copy of the Gly972Arg polymorphism of the IRS1 gene sho... BeFree 19716569 Detail
<0.001 Epilepsy, Temporal Lobe Association of insulin receptor H1085H C&gt;T, insulin receptor substrate 1 G972... BeFree 25458098 Detail
0.001 prostate carcinoma Prostate cancer risk and IRS1, IRS2, IGF1, and INS polymorphisms: strong associa... BeFree 15678496 Detail
0.001 prostate carcinoma Insulin receptor H1085H C&gt;T and insulin receptor substrate 1 G972R polymorphi... BeFree 21204696 Detail
0.005 Malignant neoplasm of prostate Insulin receptor H1085H C&gt;T and insulin receptor substrate 1 G972R polymorphi... BeFree 21204696 Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent By using a Cox proportional hazard model, common variants in the PPARG (P12A), C... BeFree 17570749 Detail
0.006 Diabetes Subjects with at least 1 copy of the Gly972Arg polymorphism of the IRS1 gene sho... BeFree 19716569 Detail
0.003 Ovarian Diseases Our data do not support an association between G972R variant of the IRS-1 with P... BeFree 18222120 Detail
0.393 Diabetes Mellitus, Non-Insulin-Dependent We have genotyped three single nucleotide polymorphisms associated with type 2 d... BeFree 14988278 Detail
0.393 Diabetes Mellitus, Non-Insulin-Dependent The PPARG Pro12 is associated with insulin resistance and this polymorphism inte... BeFree 24447396 Detail
0.002 Diabetes Mellitus, Non-Insulin-Dependent The aim of our study was to investigate whether common polymorphisms in the gene... BeFree 15127203 Detail
0.627 Diabetes Mellitus, Non-Insulin-Dependent No evidence for association of insulin receptor substrate-1 Gly972Arg variant wi... BeFree 25214251 Detail
0.627 Diabetes Mellitus, Non-Insulin-Dependent [Association of Gly972Arg polymorphism of IRS1 gene with type 2 diabetes mellitu... GAD 19716569 Detail
0.009 Metabolic syndrome X To assess the prevalence of IRS-1 Gly972Arg and GNB3 C825T polymorphisms in wome... BeFree 20170352 Detail
0.006 Diabetes Proliferator-activated receptor gamma Pro12Ala interacts with the insulin recept... BeFree 24447396 Detail
0.087 Metabolic syndrome X To assess the prevalence of IRS-1 Gly972Arg and GNB3 C825T polymorphisms in wome... BeFree 20170352 Detail
0.005 gestational diabetes Association of insulin receptor substrate-1 G972R variant with baseline characte... BeFree 16522427 Detail
0.627 Diabetes Mellitus, Non-Insulin-Dependent The Gly972Arg mutation in the IRS-1 gene has been found to be associated with in... BeFree 12588284 Detail
0.089 Diabetes Mellitus, Non-Insulin-Dependent The aim of our study was to investigate whether common polymorphisms in the gene... BeFree 15127203 Detail
0.627 Diabetes Mellitus, Non-Insulin-Dependent By using a Cox proportional hazard model, common variants in the PPARG (P12A), C... BeFree 17570749 Detail
<0.001 Ovarian Diseases We hypothesized that insulin receptor substrate-1 (IRS-1) Gly972Arg polymorphism... BeFree 17719609 Detail
<0.001 diabetes mellitus The aim of our study was to investigate whether common polymorphisms in the gene... BeFree 15127203 Detail
0.003 Ovarian Diseases We conclude that the IRS-1 Gly972Arg polymorphism is associated with PCOS in the... BeFree 17719609 Detail
<0.001 Epilepsy, Temporal Lobe Association of insulin receptor H1085H C&gt;T, insulin receptor substrate 1 G972... BeFree 25458098 Detail
0.627 Diabetes Mellitus, Non-Insulin-Dependent The PPARG Pro12 is associated with insulin resistance and this polymorphism inte... BeFree 24447396 Detail
<0.001 Epilepsy, Temporal Lobe Association of insulin receptor H1085H C&gt;T, insulin receptor substrate 1 G972... BeFree 25458098 Detail
0.047 Malignant neoplasm of breast The IRS1 Gly972Arg single-nucleotide polymorphism, which affects insulin-like gr... BeFree 22729394 Detail
0.044 polycystic ovary syndrome Association of Gly972Arg variant of insulin receptor substrate-1 with metabolic ... BeFree 16084882 Detail
0.330 Diabetes Mellitus, Non-Insulin-Dependent The aim of our study was to investigate whether common polymorphisms in the gene... BeFree 15127203 Detail
0.480 Malignant neoplasm of breast The IRS1 Gly972Arg single-nucleotide polymorphism, which affects insulin-like gr... BeFree 22729394 Detail
0.003 Ovarian Diseases The IRS-1 Gly972Arg has the highest frequency reported world-wide for PCOS women... BeFree 20229450 Detail
0.044 polycystic ovary syndrome To assess the prevalence of IRS-1 Gly972Arg and GNB3 C825T polymorphisms in wome... BeFree 20170352 Detail
0.005 gestational diabetes Thus, our data suggest that the common T2D susceptibility polymorphism of TCF7L2... BeFree 20540670 Detail
0.087 Metabolic syndrome X The rs1801278 G&gt;A polymorphism of IRS-1 is associated with metabolic syndrome... BeFree 21645940 Detail
0.627 Diabetes Mellitus, Non-Insulin-Dependent IRS1 G972R missense polymorphism is associated with failure to oral antidiabetes... BeFree 24947357 Detail
0.627 Diabetes Mellitus, Non-Insulin-Dependent Moreover, cerebrocortical insulin resistance is found in individuals with the Gl... BeFree 16877540 Detail
0.014 colorectal cancer Association between IRS-1 Gly972Arg polymorphism and colorectal cancer risk. BeFree 24696264 Detail
0.303 Congenital adrenal hyperplasia due to 21 hydroxylase deficiency The study involved a monogenic analysis of CYP21A2 in patients (375 nonclassical... BeFree 19039234 Detail
0.229 Diabetes Mellitus, Non-Insulin-Dependent The study on the relationship between IRS-1 Gly972Arg and IRS-2 Gly1057Asp polym... BeFree 22994406 Detail
0.627 Diabetes Mellitus, Non-Insulin-Dependent Association of Gly972Arg polymorphism of IRS1 gene with type 2 diabetes mellitus... BeFree 19716569 Detail
0.003 colorectal carcinoma Association between IRS-1 Gly972Arg polymorphism and colorectal cancer risk. BeFree 24696264 Detail
0.007 Diabetes Mellitus, Non-Insulin-Dependent In this Review, we discuss the role of relatively infrequent polymorphisms of ge... BeFree 19924153 Detail
0.003 polycystic ovary syndrome To assess the prevalence of IRS-1 Gly972Arg and GNB3 C825T polymorphisms in wome... BeFree 20170352 Detail
0.044 polycystic ovary syndrome No association between common Gly972Arg variant of the insulin receptor substrat... BeFree 18222120 Detail
0.627 Diabetes Mellitus, Non-Insulin-Dependent Gly972Arg variant in the insulin receptor substrate-1 gene and association with ... BeFree 12819898 Detail
0.044 polycystic ovary syndrome Very high frequency of the polymorphism for the insulin receptor substrate 1 (IR... BeFree 20229450 Detail
0.044 polycystic ovary syndrome Insulin secretion in women who have polycystic ovary syndrome and carry the Gly9... BeFree 15474880 Detail
0.044 polycystic ovary syndrome The importance of IRS-1 Gly972Arg polymorphism in evaluating the response to met... BeFree 15665022 Detail
0.008 Hypertensive disease In conclusion, the results of our study suggest that the G972R polymorphism of t... BeFree 21677657 Detail
0.129 diabetes mellitus The most common single-nucleotide polymorphism in the insulin receptor substrate... BeFree 25214251 Detail
0.010 Diabetes Mellitus, Non-Insulin-Dependent The aim of our study was to investigate whether common polymorphisms in the gene... BeFree 15127203 Detail
0.009 breast carcinoma The IRS1 Gly972Arg single-nucleotide polymorphism, which affects insulin-like gr... BeFree 22729394 Detail
0.005 diabetes mellitus The aim of our study was to investigate whether common polymorphisms in the gene... BeFree 15127203 Detail
<0.001 prediabetes syndrome This cross-sectional study aimed to investigate the independent risk factors for... BeFree 26334876 Detail
0.005 gestational diabetes The minor alleles of rs7903146 (TCF7L2), rs12255372 (TCF7L2), rs1799884 (-30G/A,... BeFree 23690305 Detail
0.123 gestational diabetes The minor alleles of rs7903146 (TCF7L2), rs12255372 (TCF7L2), rs1799884 (-30G/A,... BeFree 23690305 Detail
0.002 gestational diabetes The minor alleles of rs7903146 (TCF7L2), rs12255372 (TCF7L2), rs1799884 (-30G/A,... BeFree 23690305 Detail
0.009 gestational diabetes The minor alleles of rs7903146 (TCF7L2), rs12255372 (TCF7L2), rs1799884 (-30G/A,... BeFree 23690305 Detail
0.126 gestational diabetes The minor alleles of rs7903146 (TCF7L2), rs12255372 (TCF7L2), rs1799884 (-30G/A,... BeFree 23690305 Detail
0.145 gestational diabetes The minor alleles of rs7903146 (TCF7L2), rs12255372 (TCF7L2), rs1799884 (-30G/A,... BeFree 23690305 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_005544.3(IRS1):c.2911G>A (p.Gly971Arg) AND Insulin resistance, susceptibility to ClinVar Detail
NM_005544.3(IRS1):c.2911G>A (p.Gly971Arg) AND Coronary artery disease, susceptibility to ClinVar Detail
We investigated the combined role of single nucleotide polymorphisms (SNPs) affecting insulin signal... DisGeNET Detail
Seven single nucleotide polymorphisms (SNPs) (rs3856806 in PPARG, rs7014346 in POU5F1P1, rs989902 in... DisGeNET Detail
Seven single nucleotide polymorphisms (SNPs) (rs3856806 in PPARG, rs7014346 in POU5F1P1, rs989902 in... DisGeNET Detail
The allele frequencies of the Gly972Arg variant of the insulin receptor substrate-1 (IRS-1) gene and... DisGeNET Detail
The allele frequencies of the Gly972Arg variant of the insulin receptor substrate-1 (IRS-1) gene and... DisGeNET Detail
The allele frequencies of the Gly972Arg variant of the insulin receptor substrate-1 (IRS-1) gene and... DisGeNET Detail
The allele frequencies of the Gly972Arg variant of the insulin receptor substrate-1 (IRS-1) gene and... DisGeNET Detail
In addition, we screened other reported T2D-associated polymorphisms: PIK3R1 rs3730089, IRS1 rs18012... DisGeNET Detail
The polymorphisms PstI and MaeIII of INS, NsiI of INSR and Ala513Pro and Gly972Arg of IRS1 have been... DisGeNET Detail
The polymorphisms PstI and MaeIII of INS, NsiI of INSR and Ala513Pro and Gly972Arg of IRS1 have been... DisGeNET Detail
The polymorphisms PstI and MaeIII of INS, NsiI of INSR and Ala513Pro and Gly972Arg of IRS1 have been... DisGeNET Detail
Abnormal glucose tolerance and insulin resistance in polycystic ovary syndrome amongst the Taiwanese... DisGeNET Detail
NA DisGeNET Detail
Thus, our data suggest that the common T2D susceptibility polymorphism of TCF7L2 (rs7903146 C/T) gen... DisGeNET Detail
The IRS1 Gly972Arg single-nucleotide polymorphism, which affects insulin-like growth factor and insu... DisGeNET Detail
We were unable to confirm a recently published association of the IRS1 Gly972Arg variant with type 1... DisGeNET Detail
We replicated the significant association of rs1801278 and rs3792267 SNPs of the IRS1 and CAPN10 gen... DisGeNET Detail
The IRS1 Gly972Arg single-nucleotide polymorphism, which affects insulin-like growth factor and insu... DisGeNET Detail
The study on the relationship between IRS-1 Gly972Arg and IRS-2 Gly1057Asp polymorphisms and type 2 ... DisGeNET Detail
This population has shown a high prevalence of type 2 diabetes mellitus, and the aim of this study w... DisGeNET Detail
The most common single-nucleotide polymorphism in the insulin receptor substrate-1 (IRS1) gene is Gl... DisGeNET Detail
This population has shown a high prevalence of type 2 diabetes mellitus, and the aim of this study w... DisGeNET Detail
Insulin receptor H1085H C&gt;T and insulin receptor substrate 1 G972R polymorphisms and prostate can... DisGeNET Detail
Analysis of the IRS1 G972R polymorphism showed that RR homozygosity was found exclusively in women w... DisGeNET Detail
Data from 2 population-based case-control studies of colon and rectal cancer conducted in Utah and N... DisGeNET Detail
NA DisGeNET Detail
Data from 2 population-based case-control studies of colon and rectal cancer conducted in Utah and N... DisGeNET Detail
Thus, our data suggest that the common T2D susceptibility polymorphism of TCF7L2 (rs7903146 C/T) gen... DisGeNET Detail
The aim of our study was to investigate whether common polymorphisms in the genes regulating the ear... DisGeNET Detail
We studied possible relations between GDM and both insulin receptor substrate 1 (IRS-1) (Gly972Arg) ... DisGeNET Detail
Also, the diagnostic test to exclude diabetes amongst control subjects interacted with the associati... DisGeNET Detail
This population has shown a high prevalence of type 2 diabetes mellitus, and the aim of this study w... DisGeNET Detail
Proliferator-activated receptor gamma Pro12Ala interacts with the insulin receptor substrate 1 Gly97... DisGeNET Detail
We studied possible relations between GDM and both insulin receptor substrate 1 (IRS-1) (Gly972Arg) ... DisGeNET Detail
We have genotyped three single nucleotide polymorphisms associated with type 2 diabetes in a large t... DisGeNET Detail
Our meta-analysis suggested that IRS-1 Gly972Arg polymorphism might be considered a significant risk... DisGeNET Detail
Association testing in 9,000 people fails to confirm the association of the insulin receptor substra... DisGeNET Detail
Insulin secretion in women who have polycystic ovary syndrome and carry the Gly972Arg variant of ins... DisGeNET Detail
The aim of our study was to investigate whether common polymorphisms in the genes regulating the ear... DisGeNET Detail
Insulin receptor H1085H C&gt;T and insulin receptor substrate 1 G972R polymorphisms and prostate can... DisGeNET Detail
Increased frequency of the G972R variant of the insulin receptor substrate-1 (irs-1) gene among girl... DisGeNET Detail
The IRS1 Gly972Arg single-nucleotide polymorphism, which affects insulin-like growth factor and insu... DisGeNET Detail
Data from 2 population-based case-control studies of colon and rectal cancer conducted in Utah and N... DisGeNET Detail
Polymorphisms in the genes encoding the insulin receptor substrate (IRS) proteins, IRS-1 (Gly(972)Ar... DisGeNET Detail
The IRS1 G972R polymorphism and glomerular filtration rate in patients with type 2 diabetes of Europ... DisGeNET Detail
The aim of our study was to investigate whether common polymorphisms in the genes regulating the ear... DisGeNET Detail
This population has shown a high prevalence of type 2 diabetes mellitus, and the aim of this study w... DisGeNET Detail
In this Review, we discuss the role of relatively infrequent polymorphisms of genes that regulate in... DisGeNET Detail
This population has shown a high prevalence of type 2 diabetes mellitus, and the aim of this study w... DisGeNET Detail
Data from 2 population-based case-control studies of colon and rectal cancer conducted in Utah and N... DisGeNET Detail
The IRS1 Gly972Arg single-nucleotide polymorphism, which affects insulin-like growth factor and insu... DisGeNET Detail
Role of allelic variants Gly972Arg of IRS-1 and Gly1057Asp of IRS-2 in moderate-to-severe insulin re... DisGeNET Detail
An association between a common variant (G972R) in the IRS-1 gene and sex hormone levels in post-men... DisGeNET Detail
Patients with IRS-1 G972R were more obese at the beginning of pregnancy, had higher serum fasting in... DisGeNET Detail
By using a Cox proportional hazard model, common variants in the PPARG (P12A), CAPN10 (SNP43 and 44)... DisGeNET Detail
IRS1 G972R polymorphism and type 2 diabetes: a paradigm for the difficult ascertainment of the contr... DisGeNET Detail
An association between a common variant (G972R) in the IRS-1 gene and sex hormone levels in post-men... DisGeNET Detail
These results suggest that IRS-1 Gly972Arg polymorphism is significantly associated with the risk of... DisGeNET Detail
The aim of our study was to investigate whether common polymorphisms in the genes regulating the ear... DisGeNET Detail
The aim of our study was to investigate whether common polymorphisms in the genes regulating the ear... DisGeNET Detail
Polymorphisms in the genes encoding the insulin receptor substrate (IRS) proteins, IRS-1 (Gly(972)Ar... DisGeNET Detail
The study involved a monogenic analysis of CYP21A2 in patients (375 nonclassical 21OHD [NC21OHD] chi... DisGeNET Detail
These results suggest that IRS-1 Gly972Arg polymorphism is significantly associated with the risk of... DisGeNET Detail
This population has shown a high prevalence of type 2 diabetes mellitus, and the aim of this study w... DisGeNET Detail
Polymorphisms in the genes encoding the insulin receptor substrate (IRS) proteins, IRS-1 (Gly(972)Ar... DisGeNET Detail
No association between the Gly971Arg variant of the insulin receptor substrate 1 gene and NIDDM in t... DisGeNET Detail
Prostate cancer risk and IRS1, IRS2, IGF1, and INS polymorphisms: strong association of IRS1 G972R v... DisGeNET Detail
Role of allelic variants Gly972Arg of IRS-1 and Gly1057Asp of IRS-2 in moderate-to-severe insulin re... DisGeNET Detail
The most commonly detected polymorphism in human insulin receptor substrate-1 (IRS-1), a glycine to ... DisGeNET Detail
The aim of our study was to investigate whether common polymorphisms in the genes regulating the ear... DisGeNET Detail
Thus, our data suggest that the common T2D susceptibility polymorphism of TCF7L2 (rs7903146 C/T) gen... DisGeNET Detail
The peroxisome proliferator-activated receptor gamma (PPARG), Pro12Ala and the insulin receptor subs... DisGeNET Detail
Also, the diagnostic test to exclude diabetes amongst control subjects interacted with the associati... DisGeNET Detail
By using a Cox proportional hazard model, common variants in the PPARG (P12A), CAPN10 (SNP43 and 44)... DisGeNET Detail
Further studies, either with larger sample size or involving other single nucleotide polymorphisms (... DisGeNET Detail
The G972R variant of the insulin receptor substrate-1 (IRS-1) gene is associated with insulin resist... DisGeNET Detail
The IRS1 Gly972Arg single-nucleotide polymorphism, which affects insulin-like growth factor and insu... DisGeNET Detail
This population has shown a high prevalence of type 2 diabetes mellitus, and the aim of this study w... DisGeNET Detail
The aim of this study was to assess the association between G972R polymorphism of the insulin recept... DisGeNET Detail
Subjects with at least 1 copy of the Gly972Arg polymorphism of the IRS1 gene showed a greater risk f... DisGeNET Detail
Association of insulin receptor H1085H C&gt;T, insulin receptor substrate 1 G972R and insulin recept... DisGeNET Detail
Prostate cancer risk and IRS1, IRS2, IGF1, and INS polymorphisms: strong association of IRS1 G972R v... DisGeNET Detail
Insulin receptor H1085H C&gt;T and insulin receptor substrate 1 G972R polymorphisms and prostate can... DisGeNET Detail
Insulin receptor H1085H C&gt;T and insulin receptor substrate 1 G972R polymorphisms and prostate can... DisGeNET Detail
By using a Cox proportional hazard model, common variants in the PPARG (P12A), CAPN10 (SNP43 and 44)... DisGeNET Detail
Subjects with at least 1 copy of the Gly972Arg polymorphism of the IRS1 gene showed a greater risk f... DisGeNET Detail
Our data do not support an association between G972R variant of the IRS-1 with PCOS or its metabolic... DisGeNET Detail
We have genotyped three single nucleotide polymorphisms associated with type 2 diabetes in a large t... DisGeNET Detail
The PPARG Pro12 is associated with insulin resistance and this polymorphism interacts with IRS1 Gly9... DisGeNET Detail
The aim of our study was to investigate whether common polymorphisms in the genes regulating the ear... DisGeNET Detail
No evidence for association of insulin receptor substrate-1 Gly972Arg variant with type 2 diabetes m... DisGeNET Detail
[Association of Gly972Arg polymorphism of IRS1 gene with type 2 diabetes mellitus in lean participan... DisGeNET Detail
To assess the prevalence of IRS-1 Gly972Arg and GNB3 C825T polymorphisms in women with polycystic ov... DisGeNET Detail
Proliferator-activated receptor gamma Pro12Ala interacts with the insulin receptor substrate 1 Gly97... DisGeNET Detail
To assess the prevalence of IRS-1 Gly972Arg and GNB3 C825T polymorphisms in women with polycystic ov... DisGeNET Detail
Association of insulin receptor substrate-1 G972R variant with baseline characteristics of the patie... DisGeNET Detail
The Gly972Arg mutation in the IRS-1 gene has been found to be associated with insulin resistance and... DisGeNET Detail
The aim of our study was to investigate whether common polymorphisms in the genes regulating the ear... DisGeNET Detail
By using a Cox proportional hazard model, common variants in the PPARG (P12A), CAPN10 (SNP43 and 44)... DisGeNET Detail
We hypothesized that insulin receptor substrate-1 (IRS-1) Gly972Arg polymorphism and/or ectonucleoti... DisGeNET Detail
The aim of our study was to investigate whether common polymorphisms in the genes regulating the ear... DisGeNET Detail
We conclude that the IRS-1 Gly972Arg polymorphism is associated with PCOS in the Japanese population... DisGeNET Detail
Association of insulin receptor H1085H C&gt;T, insulin receptor substrate 1 G972R and insulin recept... DisGeNET Detail
The PPARG Pro12 is associated with insulin resistance and this polymorphism interacts with IRS1 Gly9... DisGeNET Detail
Association of insulin receptor H1085H C&gt;T, insulin receptor substrate 1 G972R and insulin recept... DisGeNET Detail
The IRS1 Gly972Arg single-nucleotide polymorphism, which affects insulin-like growth factor and insu... DisGeNET Detail
Association of Gly972Arg variant of insulin receptor substrate-1 with metabolic features in women wi... DisGeNET Detail
The aim of our study was to investigate whether common polymorphisms in the genes regulating the ear... DisGeNET Detail
The IRS1 Gly972Arg single-nucleotide polymorphism, which affects insulin-like growth factor and insu... DisGeNET Detail
The IRS-1 Gly972Arg has the highest frequency reported world-wide for PCOS women. DisGeNET Detail
To assess the prevalence of IRS-1 Gly972Arg and GNB3 C825T polymorphisms in women with polycystic ov... DisGeNET Detail
Thus, our data suggest that the common T2D susceptibility polymorphism of TCF7L2 (rs7903146 C/T) gen... DisGeNET Detail
The rs1801278 G&gt;A polymorphism of IRS-1 is associated with metabolic syndrome in healthy nondiabe... DisGeNET Detail
IRS1 G972R missense polymorphism is associated with failure to oral antidiabetes drugs in white pati... DisGeNET Detail
Moreover, cerebrocortical insulin resistance is found in individuals with the Gly972Arg polymorphism... DisGeNET Detail
Association between IRS-1 Gly972Arg polymorphism and colorectal cancer risk. DisGeNET Detail
The study involved a monogenic analysis of CYP21A2 in patients (375 nonclassical 21OHD [NC21OHD] chi... DisGeNET Detail
The study on the relationship between IRS-1 Gly972Arg and IRS-2 Gly1057Asp polymorphisms and type 2 ... DisGeNET Detail
Association of Gly972Arg polymorphism of IRS1 gene with type 2 diabetes mellitus in lean participant... DisGeNET Detail
Association between IRS-1 Gly972Arg polymorphism and colorectal cancer risk. DisGeNET Detail
In this Review, we discuss the role of relatively infrequent polymorphisms of genes that regulate in... DisGeNET Detail
To assess the prevalence of IRS-1 Gly972Arg and GNB3 C825T polymorphisms in women with polycystic ov... DisGeNET Detail
No association between common Gly972Arg variant of the insulin receptor substrate-1 and polycystic o... DisGeNET Detail
Gly972Arg variant in the insulin receptor substrate-1 gene and association with Type 2 diabetes: a m... DisGeNET Detail
Very high frequency of the polymorphism for the insulin receptor substrate 1 (IRS-1) at codon 972 (g... DisGeNET Detail
Insulin secretion in women who have polycystic ovary syndrome and carry the Gly972Arg variant of ins... DisGeNET Detail
The importance of IRS-1 Gly972Arg polymorphism in evaluating the response to metformin treatment in ... DisGeNET Detail
In conclusion, the results of our study suggest that the G972R polymorphism of the IRS-1 gene is ass... DisGeNET Detail
The most common single-nucleotide polymorphism in the insulin receptor substrate-1 (IRS1) gene is Gl... DisGeNET Detail
The aim of our study was to investigate whether common polymorphisms in the genes regulating the ear... DisGeNET Detail
The IRS1 Gly972Arg single-nucleotide polymorphism, which affects insulin-like growth factor and insu... DisGeNET Detail
The aim of our study was to investigate whether common polymorphisms in the genes regulating the ear... DisGeNET Detail
This cross-sectional study aimed to investigate the independent risk factors for prediabetes, consid... DisGeNET Detail
The minor alleles of rs7903146 (TCF7L2), rs12255372 (TCF7L2), rs1799884 (-30G/A, GCK), rs5219 (E23K,... DisGeNET Detail
The minor alleles of rs7903146 (TCF7L2), rs12255372 (TCF7L2), rs1799884 (-30G/A, GCK), rs5219 (E23K,... DisGeNET Detail
The minor alleles of rs7903146 (TCF7L2), rs12255372 (TCF7L2), rs1799884 (-30G/A, GCK), rs5219 (E23K,... DisGeNET Detail
The minor alleles of rs7903146 (TCF7L2), rs12255372 (TCF7L2), rs1799884 (-30G/A, GCK), rs5219 (E23K,... DisGeNET Detail
The minor alleles of rs7903146 (TCF7L2), rs12255372 (TCF7L2), rs1799884 (-30G/A, GCK), rs5219 (E23K,... DisGeNET Detail
The minor alleles of rs7903146 (TCF7L2), rs12255372 (TCF7L2), rs1799884 (-30G/A, GCK), rs5219 (E23K,... 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
rs1801278 dbSNP
Genome
hg38
Position
chr2:226,795,828-226,795,828
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1206
Mean of sample read depth (HGVD)
93.49
Standard deviation of sample read depth (HGVD)
47.57
Number of reference allele (HGVD)
2350
Number of alternative allele (HGVD)
62
Allele Frequency (HGVD)
0.02570480928689884
Gene Symbol (HGVD)
IRS1
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))
rs1801278
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0279
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
468
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8586
East Asian Allele Counts (ExAC)
125
East Asian Heterozygous Counts (ExAC)
123
East Asian Homozygous Counts (ExAC)
1
East Asian Allele Frequency (ExAC)
0.014558583740973678
Chromosome Counts in All Race (ExAC)
119540
Allele Counts in All Race (ExAC)
6335
Heterozygous Counts in All Race (ExAC)
5973
Homozygous Counts in All Race (ExAC)
181
Allele Frequency in All Race (ExAC)
0.05299481345156433
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