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 | |
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>C (rs2234693) and -351A>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
| Descrption | Source | Links |
|---|---|---|
| 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>C (rs2234693) and -351A>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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