chr14:64724051:C>T Detail (hg19) (ESR2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr14:64,724,051-64,724,051 |
hg38 | chr14:64,257,333-64,257,333 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001271876.1:c.984G>A | NP_001258805.1:p.Val328= |
NM_001040275.1:c.984G>A | NP_001035365.1:p.Val328= | |
NM_001437.2:c.984G>A | NP_001428.1:p.Val328= |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:0.292 |
ToMMo:0.288 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:0.370 |
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.006 | Degenerative polyarthritis | To investigate the possible influence of the single nucleotide polymorphism (SNP... | BeFree | 21523342 | Detail |
0.030 | breast carcinoma | The ESR2 rs4986938 and rs1256049 polymorphisms were described to present associa... | BeFree | 25341980 | Detail |
0.009 | atherosclerosis | In a Finnish population, the ESR2 rs1256049 polymorphism A allele is associated ... | BeFree | 18939943 | Detail |
0.006 | Degenerative polyarthritis | The rs1256049 polymorphism of the estrogen receptor-β gene can potentially be us... | BeFree | 23352710 | Detail |
<0.001 | Phobic anxiety disorder | The A allele of ESR2 rs1256049 was associated with an increased risk of GAD [OR:... | BeFree | 21570196 | Detail |
0.068 | Malignant neoplasm of breast | The ESR2 rs4986938 and rs1256049 polymorphisms were described to present associa... | BeFree | 25341980 | Detail |
0.024 | prostate carcinoma | The influence of ESR1 rs9340799 and ESR2 rs1256049 polymorphisms on prostate can... | BeFree | 24859835 | Detail |
0.087 | obesity | The relationship of three polymorphisms (rs1271572, rs1256049 and rs4986938) and... | BeFree | 19111408 | 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 | arteriosclerosis | In a Finnish population, the ESR2 rs1256049 polymorphism A allele is associated ... | BeFree | 18939943 | Detail |
0.008 | male infertility | [The RsaI polymorphism in the estrogen receptor-beta gene is associated with mal... | GAD | 15998774 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_001437.3(ESR2):c.984G>A (p.Val328=) AND not provided | ClinVar | Detail |
NM_001437.3(ESR2):c.984G>A (p.Val328=) AND ESR2-related disorder | ClinVar | Detail |
To investigate the possible influence of the single nucleotide polymorphism (SNP) of the estrogen re... | DisGeNET | Detail |
The ESR2 rs4986938 and rs1256049 polymorphisms were described to present association with breast can... | DisGeNET | Detail |
In a Finnish population, the ESR2 rs1256049 polymorphism A allele is associated with preclinical ath... | DisGeNET | Detail |
The rs1256049 polymorphism of the estrogen receptor-β gene can potentially be used to identify genet... | DisGeNET | Detail |
The A allele of ESR2 rs1256049 was associated with an increased risk of GAD [OR: 2.06, 95% CI: 1.09-... | DisGeNET | Detail |
The ESR2 rs4986938 and rs1256049 polymorphisms were described to present association with breast can... | DisGeNET | Detail |
The influence of ESR1 rs9340799 and ESR2 rs1256049 polymorphisms on prostate cancer risk. | DisGeNET | Detail |
The relationship of three polymorphisms (rs1271572, rs1256049 and rs4986938) and their associated ha... | 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 |
In a Finnish population, the ESR2 rs1256049 polymorphism A allele is associated with preclinical ath... | DisGeNET | Detail |
[The RsaI polymorphism in the estrogen receptor-beta gene is associated with male infertility.] | 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
- rs1256049 dbSNP
- Genome
- hg19
- Position
- chr14:64,724,051-64,724,051
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1208
- Mean of sample read depth (HGVD)
- 45.18
- Standard deviation of sample read depth (HGVD)
- 27.36
- Number of reference allele (HGVD)
- 1711
- Number of alternative allele (HGVD)
- 705
- Allele Frequency (HGVD)
- 0.2918046357615894
- Gene Symbol (HGVD)
- ESR2
- 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))
- rs1256049
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.2884
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 4834
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8638
- East Asian Allele Counts (ExAC)
- 3193
- East Asian Heterozygous Counts (ExAC)
- 1995
- East Asian Homozygous Counts (ExAC)
- 599
- East Asian Allele Frequency (ExAC)
- 0.3696457513313267
- Chromosome Counts in All Race (ExAC)
- 121340
- Allele Counts in All Race (ExAC)
- 8138
- Heterozygous Counts in All Race (ExAC)
- 6644
- Homozygous Counts in All Race (ExAC)
- 747
- Allele Frequency in All Race (ExAC)
- 0.06706774353057525
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