chr6:152163381:A>G Detail (hg19) (ESR1)

Information

Genome

Assembly Position
hg19 chr6:152,163,381-152,163,381
hg38 chr6:151,842,246-151,842,246 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000125.3:c.453-351A>G
NM_001122741.1:c.453-351A>G
NM_001291230.1:c.453-351A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.184
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
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 tgv27495223 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
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
0.024 prostate carcinoma The influence of ESR1 rs9340799 and ESR2 rs1256049 polymorphisms on prostate can... BeFree 24859835 Detail
0.061 Malignant neoplasm of prostate The influence of ESR1 rs9340799 and ESR2 rs1256049 polymorphisms on prostate can... BeFree 24859835 Detail
0.044 Malignant neoplasm of prostate The influence of ESR1 rs9340799 and ESR2 rs1256049 polymorphisms on prostate can... BeFree 24859835 Detail
0.011 prostate carcinoma The influence of ESR1 rs9340799 and ESR2 rs1256049 polymorphisms on prostate can... BeFree 24859835 Detail
<0.001 Osteoarthritis of the hand There was also a suggestive interaction between the HFE rs179945 and the ESR1 rs... BeFree 24825461 Detail
<0.001 Osteoarthritis of distal interphalangeal joint There was also a suggestive interaction between the HFE rs179945 and the ESR1 rs... BeFree 24825461 Detail
<0.001 Osteoarthritis of distal interphalangeal joint There was also a suggestive interaction between the HFE rs179945 and the ESR1 rs... BeFree 24825461 Detail
<0.001 Osteoarthritis of the hand There was also a suggestive interaction between the HFE rs179945 and the ESR1 rs... BeFree 24825461 Detail
<0.001 Osteoarthritis of the hand There was also a suggestive interaction between the HFE rs179945 and the ESR1 rs... BeFree 24825461 Detail
<0.001 Osteoarthritis of distal interphalangeal joint There was also a suggestive interaction between the HFE rs179945 and the ESR1 rs... BeFree 24825461 Detail
0.003 dementia Significant association was found between ESR1 polymorphisms (rs9340799 [ESR1+35... BeFree 23567436 Detail
<0.001 Mild dementia Significant association was found between ESR1 polymorphisms (rs9340799 [ESR1+35... BeFree 23567436 Detail
<0.001 Mild dementia Significant association was found between ESR1 polymorphisms (rs9340799 [ESR1+35... BeFree 23567436 Detail
0.012 dementia Significant association was found between ESR1 polymorphisms (rs9340799 [ESR1+35... BeFree 23567436 Detail
0.002 Presenile dementia Significant association was found between ESR1 polymorphisms (rs9340799 [ESR1+35... BeFree 23567436 Detail
0.003 Presenile dementia Significant association was found between ESR1 polymorphisms (rs9340799 [ESR1+35... BeFree 23567436 Detail
0.101 Malignant neoplasm of breast However, when this relation was assessed within strata based on estrogen-related... BeFree 22199302 Detail
0.240 Malignant neoplasm of breast However, when this relation was assessed within strata based on estrogen-related... BeFree 22199302 Detail
0.028 Malignant neoplasm of breast However, when this relation was assessed within strata based on estrogen-related... BeFree 22199302 Detail
0.005 Mammographic Density However, when this relation was assessed within strata based on estrogen-related... BeFree 22199302 Detail
0.003 Mammographic Density However, when this relation was assessed within strata based on estrogen-related... BeFree 22199302 Detail
0.080 breast carcinoma However, when this relation was assessed within strata based on estrogen-related... BeFree 22199302 Detail
0.004 breast carcinoma However, when this relation was assessed within strata based on estrogen-related... BeFree 22199302 Detail
0.003 Mammographic Density However, when this relation was assessed within strata based on estrogen-related... BeFree 22199302 Detail
0.021 breast carcinoma However, when this relation was assessed within strata based on estrogen-related... BeFree 22199302 Detail
0.004 breast carcinoma However, when this relation was assessed within strata based on estrogen-related... BeFree 22199302 Detail
0.006 Mammographic Density However, when this relation was assessed within strata based on estrogen-related... BeFree 22199302 Detail
0.042 Malignant neoplasm of breast However, when this relation was assessed within strata based on estrogen-related... BeFree 22199302 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
0.003 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
0.001 Anxiety Disorders It appears unlikely that the common ESR1 variants rs2234693 and rs9340799 are as... BeFree 22901010 Detail
0.012 Coronary Arteriosclerosis Meta-analysis of the association of the rs2234693 and rs9340799 polymorphisms of... BeFree 23471591 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
0.001 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
0.064 endometriosis ESR1 rs9340799 is associated with endometriosis-related infertility and in vitro... BeFree 24427778 Detail
0.003 Adolescent idiopathic scoliosis Association between the ESR1 -351A&gt;G single nucleotide polymorphism (rs934079... BeFree 25077943 Detail
0.008 Carcinoma, Endometrioid [We found that intronic variation in ESR1 was associated with endometrial cancer... GAD 18990228 Detail
0.005 Mammographic Density [Because the encoded enzymes and ESR1 are expressed in breast tissue, these SNPs... GAD 19630952 Detail
0.162 Endometrial Neoplasms [We found that intronic variation in ESR1 was associated with endometrial cancer... GAD 18990228 Detail
0.024 Degenerative polyarthritis Association of rs9340799 polymorphism in estrogen receptor alpha gene with the r... BeFree 25325995 Detail
Annotation

Annotations

DescrptionSourceLinks
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
The influence of ESR1 rs9340799 and ESR2 rs1256049 polymorphisms on prostate cancer risk. DisGeNET Detail
The influence of ESR1 rs9340799 and ESR2 rs1256049 polymorphisms on prostate cancer risk. DisGeNET Detail
The influence of ESR1 rs9340799 and ESR2 rs1256049 polymorphisms on prostate cancer risk. DisGeNET Detail
The influence of ESR1 rs9340799 and ESR2 rs1256049 polymorphisms on prostate cancer risk. DisGeNET Detail
There was also a suggestive interaction between the HFE rs179945 and the ESR1 rs9340799, and the car... DisGeNET Detail
There was also a suggestive interaction between the HFE rs179945 and the ESR1 rs9340799, and the car... DisGeNET Detail
There was also a suggestive interaction between the HFE rs179945 and the ESR1 rs9340799, and the car... DisGeNET Detail
There was also a suggestive interaction between the HFE rs179945 and the ESR1 rs9340799, and the car... DisGeNET Detail
There was also a suggestive interaction between the HFE rs179945 and the ESR1 rs9340799, and the car... DisGeNET Detail
There was also a suggestive interaction between the HFE rs179945 and the ESR1 rs9340799, and the car... DisGeNET Detail
Significant association was found between ESR1 polymorphisms (rs9340799 [ESR1+351], rs1801132 [ESR1+... DisGeNET Detail
Significant association was found between ESR1 polymorphisms (rs9340799 [ESR1+351], rs1801132 [ESR1+... DisGeNET Detail
Significant association was found between ESR1 polymorphisms (rs9340799 [ESR1+351], rs1801132 [ESR1+... DisGeNET Detail
Significant association was found between ESR1 polymorphisms (rs9340799 [ESR1+351], rs1801132 [ESR1+... DisGeNET Detail
Significant association was found between ESR1 polymorphisms (rs9340799 [ESR1+351], rs1801132 [ESR1+... DisGeNET Detail
Significant association was found between ESR1 polymorphisms (rs9340799 [ESR1+351], rs1801132 [ESR1+... DisGeNET Detail
However, when this relation was assessed within strata based on estrogen-related factors, a few SNPs... DisGeNET Detail
However, when this relation was assessed within strata based on estrogen-related factors, a few SNPs... DisGeNET Detail
However, when this relation was assessed within strata based on estrogen-related factors, a few SNPs... DisGeNET Detail
However, when this relation was assessed within strata based on estrogen-related factors, a few SNPs... DisGeNET Detail
However, when this relation was assessed within strata based on estrogen-related factors, a few SNPs... DisGeNET Detail
However, when this relation was assessed within strata based on estrogen-related factors, a few SNPs... DisGeNET Detail
However, when this relation was assessed within strata based on estrogen-related factors, a few SNPs... DisGeNET Detail
However, when this relation was assessed within strata based on estrogen-related factors, a few SNPs... DisGeNET Detail
However, when this relation was assessed within strata based on estrogen-related factors, a few SNPs... DisGeNET Detail
However, when this relation was assessed within strata based on estrogen-related factors, a few SNPs... DisGeNET Detail
However, when this relation was assessed within strata based on estrogen-related factors, a few SNPs... DisGeNET Detail
However, when this relation was assessed within strata based on estrogen-related factors, a few SNPs... 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
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
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
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
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
ESR1 rs9340799 is associated with endometriosis-related infertility and in vitro fertilization failu... DisGeNET Detail
Association between the ESR1 -351A&gt;G single nucleotide polymorphism (rs9340799) and adolescent id... DisGeNET Detail
[We found that intronic variation in ESR1 was associated with endometrial cancer risk.] DisGeNET Detail
[Because the encoded enzymes and ESR1 are expressed in breast tissue, these SNPs may influence breas... DisGeNET Detail
[We found that intronic variation in ESR1 was associated with endometrial cancer risk.] DisGeNET Detail
Association of rs9340799 polymorphism in estrogen receptor alpha gene with the risk of osteoarthriti... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs9340799 dbSNP
Genome
hg19
Position
chr6:152,163,381-152,163,381
Variant Type
snv
Reference Allele
A
Alternative Allele
G
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))
rs9340799
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1845
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3093
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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