chr6:152265522:G>C Detail (hg19) (ESR1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr6:152,265,522-152,265,522 |
hg38 | chr6:151,944,387-151,944,387 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000125.3:c.975G>C | NP_000116.2:p.Pro325= |
NM_001122741.1:c.975G>C | NP_001116213.1:p.Pro325= | |
NM_001291230.1:c.975G>C | NP_001278159.1:p.Pro325= |
Summary
MGeND
Clinical significance |
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Variant entry | 4,331 |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:0.495 |
ToMMo:0.494 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:0.510 |
Prediction
ClinVar
Clinical Significance | |
Review star | [No Data.] |
Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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Centenarian |
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MGS000068
(TMGS000140) |
Kenjiro Kosaki | Keio University | ||||
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cervical part of oesophagus |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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abdominal part of oesophagus |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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upper third of oesophagus |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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middle third of oesophagus |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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lower third of oesophagus |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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oesophagus, unspecified |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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fundus of stomach |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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body of stomach |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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pyloric antrum |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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stomach, unspecified |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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duodenum |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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jejunum |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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ileum |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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small intestine, unspecified |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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caecum |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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appendix |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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ascending colon |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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transverse colon |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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descending colon |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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sigmoid colon |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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colon, unspecified |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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malignant neoplasm of rectosigmoid junction |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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malignant neoplasm of rectum |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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anal canal |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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liver cell carcinoma |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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intrahepatic bile duct carcinoma |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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malignant neoplasm of gallbladder |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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extrahepatic bile duct |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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ampulla of vater |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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head of pancreas |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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body of pancreas |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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tail of pancreas |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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ill-defined sites within the digestive system |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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bronchus or lung, unspecified |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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retroperitoneum |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
<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 |
0.240 | Malignant neoplasm of breast | When stratified by ER status, ESR1 rs1801132, rs2046210, and rs3020314 showed st... | BeFree | 25228414 | Detail |
0.005 | Sporadic Breast Carcinoma | The estrogen receptor alpha C975G variant in familial and sporadic breast cancer... | BeFree | 16886637 | 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 |
0.080 | breast carcinoma | When stratified by ER status, ESR1 rs1801132, rs2046210, and rs3020314 showed st... | BeFree | 25228414 | 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 |
<0.001 | Mild dementia | Significant association was found between ESR1 polymorphisms (rs9340799 [ESR1+35... | BeFree | 23567436 | Detail |
0.007 | Metabolic syndrome X | To investigate genetic single nucleotide polymorphisms (SNPs) in estrogen recept... | BeFree | 22011627 | 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 |
<0.001 | HIV Infections | To investigate genetic single nucleotide polymorphisms (SNPs) in estrogen recept... | BeFree | 22011627 | Detail |
0.003 | Presenile dementia | Significant association was found between ESR1 polymorphisms (rs9340799 [ESR1+35... | BeFree | 23567436 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
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 |
When stratified by ER status, ESR1 rs1801132, rs2046210, and rs3020314 showed stronger associations ... | DisGeNET | Detail |
The estrogen receptor alpha C975G variant in familial and sporadic breast cancer: a case-control stu... | 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 |
When stratified by ER status, ESR1 rs1801132, rs2046210, and rs3020314 showed stronger associations ... | 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 |
Significant association was found between ESR1 polymorphisms (rs9340799 [ESR1+351], rs1801132 [ESR1+... | DisGeNET | Detail |
To investigate genetic single nucleotide polymorphisms (SNPs) in estrogen receptor-α (ERα) (ESR1, rs... | 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 |
To investigate genetic single nucleotide polymorphisms (SNPs) in estrogen receptor-α (ERα) (ESR1, rs... | DisGeNET | Detail |
Significant association was found between ESR1 polymorphisms (rs9340799 [ESR1+351], rs1801132 [ESR1+... | 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
- -
- Genome
- hg19
- Position
- chr6:152,265,522-152,265,522
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1180
- Mean of sample read depth (HGVD)
- 98.40
- Standard deviation of sample read depth (HGVD)
- 45.90
- Number of reference allele (HGVD)
- 1190
- Number of alternative allele (HGVD)
- 1167
- Allele Frequency (HGVD)
- 0.49512091641917694
- Gene Symbol (HGVD)
- ESR1
- 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))
- rs1801132
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.4943
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 8285
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8618
- East Asian Allele Counts (ExAC)
- 4396
- East Asian Heterozygous Counts (ExAC)
- 2150
- East Asian Homozygous Counts (ExAC)
- 1123
- East Asian Allele Frequency (ExAC)
- 0.5100951496867022
- Chromosome Counts in All Race (ExAC)
- 121356
- Allele Counts in All Race (ExAC)
- 89342
- Heterozygous Counts in All Race (ExAC)
- 22072
- Homozygous Counts in All Race (ExAC)
- 33635
- Allele Frequency in All Race (ExAC)
- 0.7361976334091433
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