chr6:151842200:T>C Detail (hg38) (ESR1)

Information

Genome

Assembly Position
hg19 chr6:152,163,335-152,163,335 View the variant detail on this assembly version.
hg38 chr6:151,842,200-151,842,200

HGVS

Type Transcript Protein
RefSeq NM_000125.3:c.453-397T>C
NM_001122741.1:c.453-397T>C
NM_001291230.1:c.453-397T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.424
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance risk factor
Review star
Show details
Links
Type Database ID Link
Gene MIM 133430 OMIM
HGNC 3467 HGNC
Ensembl ENSG00000091831 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv27495222 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
risk factor 2003-11-05 no assertion criteria provided Myocardial infarction, susceptibility to germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.008 gynecomastia Thus, the aim of this study was to evaluate the relationships between CYP19 (rs2... BeFree 24625355 Detail
<0.001 gynecomastia Thus, the aim of this study was to evaluate the relationships between CYP19 (rs2... BeFree 24625355 Detail
0.033 breast carcinoma We did not observe an association between potential functional genetic polymorph... BeFree 23935996 Detail
0.114 Malignant neoplasm of breast We did not observe an association between potential functional genetic polymorph... BeFree 23935996 Detail
0.004 breast carcinoma We did not observe an association between potential functional genetic polymorph... BeFree 23935996 Detail
0.080 breast carcinoma We did not observe an association between potential functional genetic polymorph... BeFree 23935996 Detail
0.248 endometriosis Patients with endometriosis (n = 150) and fertile controls (n = 199) were genoty... BeFree 20586553 Detail
0.028 Malignant neoplasm of breast We did not observe an association between potential functional genetic polymorph... BeFree 23935996 Detail
0.132 Malignant neoplasm of breast We did not observe an association between potential functional genetic polymorph... BeFree 23935996 Detail
0.240 endometriosis Patients with endometriosis (n = 150) and fertile controls (n = 199) were genoty... BeFree 20586553 Detail
<0.001 Tension Headache We aimed to explore the single-locus, haplotype and epistasis patterns and the c... BeFree 19673915 Detail
<0.001 Tension Headache We aimed to explore the single-locus, haplotype and epistasis patterns and the c... BeFree 19673915 Detail
0.002 endometrial carcinoma Our data suggest that the ESR1 (rs2234693 and rs9340799) and the ESR2 (rs1255998... BeFree 19438492 Detail
0.002 Malignant neoplasm of endometrium Our data suggest that the ESR1 (rs2234693 and rs9340799) and the ESR2 (rs1255998... BeFree 19438492 Detail
0.002 uterine corpus cancer Our data suggest that the ESR1 (rs2234693 and rs9340799) and the ESR2 (rs1255998... BeFree 19438492 Detail
<0.001 premature menopause To identify whether variants found in a large Han Chinese cohort - 8q22.3 SNPs r... BeFree 24103315 Detail
0.002 premature menopause To identify whether variants found in a large Han Chinese cohort - 8q22.3 SNPs r... BeFree 24103315 Detail
<0.001 Dissecting aneurysm of the thoracic aorta The current study indicates that: (i) there are statistical differences between ... BeFree 22009847 Detail
<0.001 HIV Infections To investigate genetic single nucleotide polymorphisms (SNPs) in estrogen recept... BeFree 22011627 Detail
0.003 Metabolic syndrome X To investigate genetic single nucleotide polymorphisms (SNPs) in estrogen recept... BeFree 22011627 Detail
0.007 Metabolic syndrome X To investigate genetic single nucleotide polymorphisms (SNPs) in estrogen recept... BeFree 22011627 Detail
<0.001 HIV Infections To investigate genetic single nucleotide polymorphisms (SNPs) in estrogen recept... BeFree 22011627 Detail
0.017 breast carcinoma We examined the association of single nucleotide polymorphism (SNP) in estrogen ... BeFree 24430361 Detail
0.267 myocardial infarction ESR1 is a candidate gene for CHD although recent meta-analyses of the rs2234693 ... BeFree 19608186 Detail
0.003 Breast Diseases In a case-control study of women from Shanghai, China, we examined the risk of b... BeFree 20846920 Detail
0.001 Mental Depression In women, the ER-α rs2234693 and rs9340799 polymorphisms were significantly asso... BeFree 21804148 Detail
0.001 Depressive Symptoms It appears unlikely that the common ESR1 variants rs2234693 and rs9340799 are as... BeFree 22901010 Detail
0.019 Coronary heart disease Meta-analysis of the association of the rs2234693 and rs9340799 polymorphisms of... BeFree 23471591 Detail
<0.001 dementia Although there was only weak support for a gender-specific association between t... BeFree 23491264 Detail
0.003 Myocardial Ischemia Variations in the -397T&gt;C (rs2234693) and -351A&gt;G (rs9340799) single nucle... BeFree 18309176 Detail
0.001 depressive disorder In women, the ER-α rs2234693 and rs9340799 polymorphisms were significantly asso... BeFree 21804148 Detail
0.012 Coronary Arteriosclerosis Qualitative assessment of previous evidence and an updated meta-analysis confirm... BeFree 19608186 Detail
<0.001 Presenile dementia Although there was only weak support for a gender-specific association between t... BeFree 23491264 Detail
0.019 Coronary heart disease Qualitative assessment of previous evidence and an updated meta-analysis confirm... BeFree 19608186 Detail
0.228 dementia Although there was only weak support for a gender-specific association between t... BeFree 23491264 Detail
0.080 Presenile dementia Although there was only weak support for a gender-specific association between t... BeFree 23491264 Detail
0.001 Anxiety Disorders It appears unlikely that the common ESR1 variants rs2234693 and rs9340799 are as... BeFree 22901010 Detail
0.097 Malignant neoplasm of breast We examined the association of single nucleotide polymorphism (SNP) in estrogen ... BeFree 24430361 Detail
0.267 myocardial infarction [ESR1 is a candidate gene for CHD although recent meta-analyses of the rs2234693... GAD 19608186 Detail
0.012 Coronary Arteriosclerosis Meta-analysis of the association of the rs2234693 and rs9340799 polymorphisms of... BeFree 23471591 Detail
0.068 Malignant neoplasm of breast We examined the association of single nucleotide polymorphism (SNP) in estrogen ... BeFree 24430361 Detail
0.017 schizophrenia A recent study reported an association between rs2234693, which influences enhan... BeFree 19386276 Detail
0.019 Coronary heart disease [Qualitative assessment of previous evidence and an updated meta-analysis confir... GAD 19608186 Detail
0.006 major depressive disorder It appears unlikely that the common ESR1 variants rs2234693 and rs9340799 are as... BeFree 22901010 Detail
0.169 Alzheimer's disease Meta-analysis of the association between polymorphisms of estrogen receptor α ge... BeFree 24829062 Detail
0.003 migraine with aura Out of four ESR1 polymorphisms, only rs2234693 variant allele was significantly ... BeFree 22511967 Detail
0.030 breast carcinoma We examined the association of single nucleotide polymorphism (SNP) in estrogen ... BeFree 24430361 Detail
0.001 Unipolar Depression It appears unlikely that the common ESR1 variants rs2234693 and rs9340799 are as... BeFree 22901010 Detail
0.012 Coronary Arteriosclerosis In previous association studies, the -397T/C (rs2234693) and -351A/G (rs9340799)... BeFree 16203927 Detail
0.025 Cardiovascular Diseases The association between the rs2234693 and rs9340799 estrogen receptor alpha gene... BeFree 20702456 Detail
0.019 breast carcinoma Five SNPs (AHR rs2066853, ATM rs1003623, ESR1 rs2234693, GSTP1 rs1695, and SHBG ... BeFree 21454829 Detail
0.099 Malignant neoplasm of breast Five SNPs (AHR rs2066853, ATM rs1003623, ESR1 rs2234693, GSTP1 rs1695, and SHBG ... BeFree 21454829 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000125.4(ESR1):c.453-397T>C AND Myocardial infarction, susceptibility to ClinVar Detail
Thus, the aim of this study was to evaluate the relationships between CYP19 (rs2414096), ER alpha (r... DisGeNET Detail
Thus, the aim of this study was to evaluate the relationships between CYP19 (rs2414096), ER alpha (r... DisGeNET Detail
We did not observe an association between potential functional genetic polymorphisms in the estrogen... DisGeNET Detail
We did not observe an association between potential functional genetic polymorphisms in the estrogen... DisGeNET Detail
We did not observe an association between potential functional genetic polymorphisms in the estrogen... DisGeNET Detail
We did not observe an association between potential functional genetic polymorphisms in the estrogen... DisGeNET Detail
Patients with endometriosis (n = 150) and fertile controls (n = 199) were genotyped for polymorphism... DisGeNET Detail
We did not observe an association between potential functional genetic polymorphisms in the estrogen... DisGeNET Detail
We did not observe an association between potential functional genetic polymorphisms in the estrogen... DisGeNET Detail
Patients with endometriosis (n = 150) and fertile controls (n = 199) were genotyped for polymorphism... DisGeNET Detail
We aimed to explore the single-locus, haplotype and epistasis patterns and the contribution of oestr... DisGeNET Detail
We aimed to explore the single-locus, haplotype and epistasis patterns and the contribution of oestr... DisGeNET Detail
Our data suggest that the ESR1 (rs2234693 and rs9340799) and the ESR2 (rs1255998 and rs944050) polym... DisGeNET Detail
Our data suggest that the ESR1 (rs2234693 and rs9340799) and the ESR2 (rs1255998 and rs944050) polym... DisGeNET Detail
Our data suggest that the ESR1 (rs2234693 and rs9340799) and the ESR2 (rs1255998 and rs944050) polym... DisGeNET Detail
To identify whether variants found in a large Han Chinese cohort - 8q22.3 SNPs rs3847153 and rs31089... DisGeNET Detail
To identify whether variants found in a large Han Chinese cohort - 8q22.3 SNPs rs3847153 and rs31089... DisGeNET Detail
The current study indicates that: (i) there are statistical differences between patients with double... DisGeNET Detail
To investigate genetic single nucleotide polymorphisms (SNPs) in estrogen receptor-α (ERα) (ESR1, rs... DisGeNET Detail
To investigate genetic single nucleotide polymorphisms (SNPs) in estrogen receptor-α (ERα) (ESR1, rs... DisGeNET Detail
To investigate genetic single nucleotide polymorphisms (SNPs) in estrogen receptor-α (ERα) (ESR1, rs... DisGeNET Detail
To investigate genetic single nucleotide polymorphisms (SNPs) in estrogen receptor-α (ERα) (ESR1, rs... DisGeNET Detail
We examined the association of single nucleotide polymorphism (SNP) in estrogen receptors, ESR1 (rs2... DisGeNET Detail
ESR1 is a candidate gene for CHD although recent meta-analyses of the rs2234693 variant reported inc... DisGeNET Detail
In a case-control study of women from Shanghai, China, we examined the risk of breast cancer and fib... DisGeNET Detail
In women, the ER-α rs2234693 and rs9340799 polymorphisms were significantly associated with the risk... DisGeNET Detail
It appears unlikely that the common ESR1 variants rs2234693 and rs9340799 are associated with modera... DisGeNET Detail
Meta-analysis of the association of the rs2234693 and rs9340799 polymorphisms of estrogen receptor a... DisGeNET Detail
Although there was only weak support for a gender-specific association between the common ESR1rs2234... DisGeNET Detail
Variations in the -397T&gt;C (rs2234693) and -351A&gt;G (rs9340799) single nucleotide polymorphisms ... DisGeNET Detail
In women, the ER-α rs2234693 and rs9340799 polymorphisms were significantly associated with the risk... DisGeNET Detail
Qualitative assessment of previous evidence and an updated meta-analysis confirms lack of associatio... DisGeNET Detail
Although there was only weak support for a gender-specific association between the common ESR1rs2234... DisGeNET Detail
Qualitative assessment of previous evidence and an updated meta-analysis confirms lack of associatio... DisGeNET Detail
Although there was only weak support for a gender-specific association between the common ESR1rs2234... DisGeNET Detail
Although there was only weak support for a gender-specific association between the common ESR1rs2234... DisGeNET Detail
It appears unlikely that the common ESR1 variants rs2234693 and rs9340799 are associated with modera... DisGeNET Detail
We examined the association of single nucleotide polymorphism (SNP) in estrogen receptors, ESR1 (rs2... DisGeNET Detail
[ESR1 is a candidate gene for CHD although recent meta-analyses of the rs2234693 variant reported in... DisGeNET Detail
Meta-analysis of the association of the rs2234693 and rs9340799 polymorphisms of estrogen receptor a... DisGeNET Detail
We examined the association of single nucleotide polymorphism (SNP) in estrogen receptors, ESR1 (rs2... DisGeNET Detail
A recent study reported an association between rs2234693, which influences enhancer activity levels ... DisGeNET Detail
[Qualitative assessment of previous evidence and an updated meta-analysis confirms lack of associati... DisGeNET Detail
It appears unlikely that the common ESR1 variants rs2234693 and rs9340799 are associated with modera... DisGeNET Detail
Meta-analysis of the association between polymorphisms of estrogen receptor α genes rs9340799 and rs... DisGeNET Detail
Out of four ESR1 polymorphisms, only rs2234693 variant allele was significantly associated in migrai... DisGeNET Detail
We examined the association of single nucleotide polymorphism (SNP) in estrogen receptors, ESR1 (rs2... DisGeNET Detail
It appears unlikely that the common ESR1 variants rs2234693 and rs9340799 are associated with modera... DisGeNET Detail
In previous association studies, the -397T/C (rs2234693) and -351A/G (rs9340799) single nucleotide p... DisGeNET Detail
The association between the rs2234693 and rs9340799 estrogen receptor alpha gene polymorphisms and r... DisGeNET Detail
Five SNPs (AHR rs2066853, ATM rs1003623, ESR1 rs2234693, GSTP1 rs1695, and SHBG rs6259) showed gener... DisGeNET Detail
Five SNPs (AHR rs2066853, ATM rs1003623, ESR1 rs2234693, GSTP1 rs1695, and SHBG rs6259) showed gener... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2234693 dbSNP
Genome
hg38
Position
chr6:151,842,200-151,842,200
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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))
rs2234693
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4237
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7102
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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