chr2:31805706:G>C Detail (hg19) (SRD5A2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:31,805,706-31,805,706 |
| hg38 | chr2:31,580,636-31,580,636 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000348.3:c.264C>G | NP_000339.2:p.Ala88= |
| Ensemble | ENST00000622030.2:c.264C>G | ENST00000622030.2:p.Ala88= |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.555 |
| ToMMo:0.569 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.540 |
Prediction
ClinVar
| Clinical Significance |
Benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
2015-03-03 | criteria provided, single submitter | not provided |
germline
not provided
|
Detail |
|
Benign
|
criteria provided, single submitter | not specified |
germline
|
Detail | |
|
Benign
|
2024-02-01 | criteria provided, multiple submitters, no conflicts | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | Metastatic Prostate Carcinoma | We studied the polymorphisms rs518673 and rs166050 in SRD5A1, and rs12470143, rs... | BeFree | 26169017 | Detail |
| <0.001 | Metastatic Prostate Carcinoma | We studied the polymorphisms rs518673 and rs166050 in SRD5A1, and rs12470143, rs... | BeFree | 26169017 | Detail |
| 0.021 | Neoplasm Metastasis | There was an association with SRD5A2 V89L LL genotype and metastases at the time... | BeFree | 12042668 | Detail |
| 0.016 | prostate carcinoma | Furthermore, SRD5A2 rs523349 polymorphism may be a promising biomarker for metas... | BeFree | 26169017 | Detail |
| 0.016 | prostate carcinoma | Our results do not support the hypothesis that the V89L and A49T polymorphisms i... | BeFree | 12712437 | Detail |
| 0.005 | Malignant neoplasm of prostate | Increasing studies investigating the association between steroid 5-alpha reducta... | BeFree | 19760631 | Detail |
| 0.003 | Malignant neoplasm of prostate | The aim of the present study was to evaluate the distribution of polymorphisms f... | BeFree | 11847524 | Detail |
| 0.016 | prostate carcinoma | These data do not support a moderate to large effect of the SRD5A2 V89L polymorp... | BeFree | 10606227 | Detail |
| 0.016 | prostate carcinoma | The prostate is an androgen-regulated organ and polymorphisms in genes involved ... | BeFree | 14991867 | Detail |
| 0.016 | prostate carcinoma | The SRD5A2 V89L polymorphism is associated with severity of disease in men with ... | BeFree | 18780294 | Detail |
| 0.009 | Malignant neoplasm of ovary | No association was observed for the vast majority of polymorphisms, but there wa... | BeFree | 17182175 | Detail |
| 0.010 | prostate carcinoma | Low-activity V89L variant in SRD5A2 is associated with aggressive prostate cance... | BeFree | 17448593 | Detail |
| 0.010 | prostate carcinoma | Increasing studies investigating the association between steroid 5-alpha reducta... | BeFree | 19760631 | Detail |
| 0.016 | prostate carcinoma | Association of V89L SRD5A2 polymorphism with prostate cancer development in a Ja... | BeFree | 12771801 | Detail |
| 0.002 | ovarian carcinoma | No association was observed for the vast majority of polymorphisms, but there wa... | BeFree | 17182175 | Detail |
| 0.096 | Malignant neoplasm of prostate | Association of V89L SRD5A2 polymorphism with prostate cancer development in a Ja... | BeFree | 12771801 | Detail |
| 0.016 | prostate carcinoma | Low-activity V89L variant in SRD5A2 is associated with aggressive prostate cance... | BeFree | 17448593 | Detail |
| 0.003 | Malignant neoplasm of prostate | The SRD5A2 polymorphisms A49T, V89L and R227Q, the androgen receptor CAG and GGN... | BeFree | 16039774 | Detail |
| 0.011 | Benign Prostatic Hyperplasia | In men with a clinical diagnosis of benign prostatic hyperplasia (BPH), polytomo... | BeFree | 15136785 | Detail |
| 0.016 | prostate carcinoma | The CYP17 MspA1 I polymorphism has been associated with increased prostate cance... | BeFree | 11303586 | Detail |
| <0.001 | Benign Prostatic Hyperplasia | In men with a clinical diagnosis of benign prostatic hyperplasia (BPH), polytomo... | BeFree | 15136785 | Detail |
| <0.001 | Alcoholic Intoxication, Chronic | In this study, we explored whether functionally relevant genetic polymorphisms i... | BeFree | 22707254 | Detail |
| 0.096 | Malignant neoplasm of prostate | These data do not support a moderate to large effect of the SRD5A2 V89L polymorp... | BeFree | 10606227 | Detail |
| <0.001 | Benign Prostatic Hyperplasia | The SRD5A2 polymorphisms A49T, V89L and R227Q, the androgen receptor CAG and GGN... | BeFree | 16039774 | Detail |
| 0.096 | Malignant neoplasm of prostate | We also found no evidence of a gene-gene interaction between CYP17 and SRD5A2 V8... | BeFree | 11440959 | Detail |
| 0.096 | Malignant neoplasm of prostate | The SRD5A2 V89L polymorphism is associated with severity of disease in men with ... | BeFree | 18780294 | Detail |
| 0.096 | Malignant neoplasm of prostate | The CYP17 MspA1 I polymorphism has been associated with increased prostate cance... | BeFree | 11303586 | Detail |
| 0.004 | prostate carcinoma | The prostate is an androgen-regulated organ and polymorphisms in genes involved ... | BeFree | 14991867 | Detail |
| 0.010 | prostate carcinoma | Cytosine-adenine-guanine repeat length of the androgen receptor gene and the A49... | BeFree | 12210487 | Detail |
| 0.003 | Malignant neoplasm of ovary | No association was observed for the vast majority of polymorphisms, but there wa... | BeFree | 17182175 | Detail |
| 0.096 | Malignant neoplasm of prostate | The CYP17 MspA1 I polymorphism has been associated with increased prostate cance... | BeFree | 11303586 | Detail |
| 0.016 | prostate carcinoma | The SRD5A2 high-activity allele variants A49T AT and V89L LL were more frequent ... | BeFree | 16039774 | Detail |
| 0.096 | Malignant neoplasm of prostate | SRD5A2 V89L polymorphism and prostate cancer risk: a meta-analysis. | BeFree | 19760631 | Detail |
| 0.017 | Malignant neoplasm of prostate | Low-activity V89L variant in SRD5A2 is associated with aggressive prostate cance... | BeFree | 17448593 | Detail |
| <0.001 | Congenital hypoplasia of penis | Micropenis and the 5alpha-reductase-2 (SRD5A2) gene: mutation and V89L polymorph... | BeFree | 12843198 | Detail |
| 0.002 | Malignant neoplasm of prostate | Our results indicate that the SRD5A2 V89L VV genotype interacts with VDR FokI TT... | BeFree | 18483391 | Detail |
| 0.016 | prostate carcinoma | The aim of the present study was to evaluate the distribution of polymorphisms f... | BeFree | 11847524 | Detail |
| 0.016 | prostate carcinoma | V89L polymorphism of the 5alpha-reductase Type II gene (SRD5A2), endogenous sex ... | BeFree | 18268111 | Detail |
| 0.016 | prostate carcinoma | The CYP17 MspA1 I polymorphism has been associated with increased prostate cance... | BeFree | 11303586 | Detail |
| 0.096 | Malignant neoplasm of prostate | The aim of the present study was to evaluate the distribution of polymorphisms f... | BeFree | 11847524 | Detail |
| 0.096 | Malignant neoplasm of prostate | The aim of the present study was to evaluate the distribution of polymorphisms f... | BeFree | 11847524 | Detail |
| 0.016 | prostate carcinoma | Steroid 5-alpha-reductase type 2 (SRD5A2) V89L and A49T polymorphisms and sporad... | BeFree | 23277398 | Detail |
| 0.003 | prostate carcinoma | The SRD5A2 polymorphisms A49T, V89L and R227Q, the androgen receptor CAG and GGN... | BeFree | 16039774 | Detail |
| 0.280 | Malignant neoplasm of prostate | The aim of the present study was to evaluate the distribution of polymorphisms f... | BeFree | 11847524 | Detail |
| 0.016 | prostate carcinoma | The aim of the present study was to evaluate the distribution of polymorphisms f... | BeFree | 11847524 | Detail |
| 0.017 | Malignant neoplasm of prostate | Cytosine-adenine-guanine repeat length of the androgen receptor gene and the A49... | BeFree | 12210487 | Detail |
| 0.003 | Benign Prostatic Hyperplasia | In men with a clinical diagnosis of benign prostatic hyperplasia (BPH), polytomo... | BeFree | 15136785 | Detail |
| 0.096 | Malignant neoplasm of prostate | Steroid 5-alpha-reductase type 2 (SRD5A2) V89L and A49T polymorphisms and sporad... | BeFree | 23277398 | Detail |
| 0.017 | Malignant neoplasm of prostate | Increasing studies investigating the association between steroid 5-alpha reducta... | BeFree | 19760631 | Detail |
| 0.096 | Malignant neoplasm of prostate | The SRD5A2 high-activity allele variants A49T AT and V89L LL were more frequent ... | BeFree | 16039774 | Detail |
| 0.096 | Malignant neoplasm of prostate | V89L polymorphism of the 5alpha-reductase Type II gene (SRD5A2), endogenous sex ... | BeFree | 18268111 | Detail |
| 0.005 | Malignant neoplasm of prostate | V89L polymorphism of the 5alpha-reductase Type II gene (SRD5A2), endogenous sex ... | BeFree | 18268111 | Detail |
| 0.096 | Malignant neoplasm of prostate | Low-activity V89L variant in SRD5A2 is associated with aggressive prostate cance... | BeFree | 17448593 | Detail |
| 0.080 | prostate carcinoma | The aim of the present study was to evaluate the distribution of polymorphisms f... | BeFree | 11847524 | Detail |
| 0.002 | prostate carcinoma | Our results indicate that the SRD5A2 V89L VV genotype interacts with VDR FokI TT... | BeFree | 18483391 | Detail |
| 0.003 | prostate carcinoma | Increasing studies investigating the association between steroid 5-alpha reducta... | BeFree | 19760631 | Detail |
| 0.016 | prostate carcinoma | SRD5A2 V89L polymorphism and prostate cancer risk: a meta-analysis. | BeFree | 19760631 | Detail |
| 0.004 | Malignant neoplasm of prostate | The prostate is an androgen-regulated organ and polymorphisms in genes involved ... | BeFree | 14991867 | Detail |
| 0.096 | Malignant neoplasm of prostate | Longer (TA)n repeat but not A49T and V89L polymorphisms in SRD5A2 gene may confe... | BeFree | 19443907 | Detail |
| 0.016 | prostate carcinoma | Longer (TA)n repeat but not A49T and V89L polymorphisms in SRD5A2 gene may confe... | BeFree | 19443907 | Detail |
| 0.011 | Benign Prostatic Hyperplasia | The SRD5A2 polymorphisms A49T, V89L and R227Q, the androgen receptor CAG and GGN... | BeFree | 16039774 | Detail |
| 0.006 | Penis agenesis | Micropenis and the 5alpha-reductase-2 (SRD5A2) gene: mutation and V89L polymorph... | BeFree | 12843198 | Detail |
| 0.096 | Malignant neoplasm of prostate | The prostate is an androgen-regulated organ and polymorphisms in genes involved ... | BeFree | 14991867 | Detail |
| <0.001 | ovarian carcinoma | No association was observed for the vast majority of polymorphisms, but there wa... | BeFree | 17182175 | Detail |
| 0.016 | prostate carcinoma | We also found no evidence of a gene-gene interaction between CYP17 and SRD5A2 V8... | BeFree | 11440959 | Detail |
| 0.003 | prostate carcinoma | V89L polymorphism of the 5alpha-reductase Type II gene (SRD5A2), endogenous sex ... | BeFree | 18268111 | Detail |
| 0.096 | Malignant neoplasm of prostate | Our results do not support the hypothesis that the V89L and A49T polymorphisms i... | BeFree | 12712437 | Detail |
| 0.096 | Malignant neoplasm of prostate | Furthermore, SRD5A2 rs523349 polymorphism may be a promising biomarker for metas... | BeFree | 26169017 | Detail |
| <0.001 | Ovarian Diseases | The Leu allele of the Val89Leu variant in SRD5A2 was associated with protection ... | BeFree | 16849416 | Detail |
| 0.003 | prostate carcinoma | The aim of the present study was to evaluate the distribution of polymorphisms f... | BeFree | 11847524 | Detail |
| <0.001 | Maternal hypertension | Gene-environment interactions were identified for rs523349 in SRD5A2 with estrog... | BeFree | 23088992 | Detail |
| <0.001 | Maternal hypertension | Gene-environment interactions were identified for rs523349 in SRD5A2 with estrog... | BeFree | 23088992 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000348.4(SRD5A2):c.265C>G (p.Leu89Val) AND not provided | ClinVar | Detail |
| NM_000348.4(SRD5A2):c.265C>G (p.Leu89Val) AND not specified | ClinVar | Detail |
| NM_000348.4(SRD5A2):c.265C>G (p.Leu89Val) AND 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | ClinVar | Detail |
| We studied the polymorphisms rs518673 and rs166050 in SRD5A1, and rs12470143, rs523349, rs676033 and... | DisGeNET | Detail |
| We studied the polymorphisms rs518673 and rs166050 in SRD5A1, and rs12470143, rs523349, rs676033 and... | DisGeNET | Detail |
| There was an association with SRD5A2 V89L LL genotype and metastases at the time of diagnosis, OR 5.... | DisGeNET | Detail |
| Furthermore, SRD5A2 rs523349 polymorphism may be a promising biomarker for metastatic prostate cance... | DisGeNET | Detail |
| Our results do not support the hypothesis that the V89L and A49T polymorphisms in the SRD5A2 gene ar... | DisGeNET | Detail |
| Increasing studies investigating the association between steroid 5-alpha reductase type II gene poly... | DisGeNET | Detail |
| The aim of the present study was to evaluate the distribution of polymorphisms for the androgen rece... | DisGeNET | Detail |
| These data do not support a moderate to large effect of the SRD5A2 V89L polymorphism on plasma AAG l... | DisGeNET | Detail |
| The prostate is an androgen-regulated organ and polymorphisms in genes involved in testosterone synt... | DisGeNET | Detail |
| The SRD5A2 V89L polymorphism is associated with severity of disease in men with early onset prostate... | DisGeNET | Detail |
| No association was observed for the vast majority of polymorphisms, but there was suggestive evidenc... | DisGeNET | Detail |
| Low-activity V89L variant in SRD5A2 is associated with aggressive prostate cancer risk: an explanati... | DisGeNET | Detail |
| Increasing studies investigating the association between steroid 5-alpha reductase type II gene poly... | DisGeNET | Detail |
| Association of V89L SRD5A2 polymorphism with prostate cancer development in a Japanese population. | DisGeNET | Detail |
| No association was observed for the vast majority of polymorphisms, but there was suggestive evidenc... | DisGeNET | Detail |
| Association of V89L SRD5A2 polymorphism with prostate cancer development in a Japanese population. | DisGeNET | Detail |
| Low-activity V89L variant in SRD5A2 is associated with aggressive prostate cancer risk: an explanati... | DisGeNET | Detail |
| The SRD5A2 polymorphisms A49T, V89L and R227Q, the androgen receptor CAG and GGN repeats and sex hor... | DisGeNET | Detail |
| In men with a clinical diagnosis of benign prostatic hyperplasia (BPH), polytomous logistic regressi... | DisGeNET | Detail |
| The CYP17 MspA1 I polymorphism has been associated with increased prostate cancer risk, and the SRD5... | DisGeNET | Detail |
| In men with a clinical diagnosis of benign prostatic hyperplasia (BPH), polytomous logistic regressi... | DisGeNET | Detail |
| In this study, we explored whether functionally relevant genetic polymorphisms in SRD5A2 (V89L, A49T... | DisGeNET | Detail |
| These data do not support a moderate to large effect of the SRD5A2 V89L polymorphism on plasma AAG l... | DisGeNET | Detail |
| The SRD5A2 polymorphisms A49T, V89L and R227Q, the androgen receptor CAG and GGN repeats and sex hor... | DisGeNET | Detail |
| We also found no evidence of a gene-gene interaction between CYP17 and SRD5A2 V89L polymorphisms on ... | DisGeNET | Detail |
| The SRD5A2 V89L polymorphism is associated with severity of disease in men with early onset prostate... | DisGeNET | Detail |
| The CYP17 MspA1 I polymorphism has been associated with increased prostate cancer risk, and the SRD5... | DisGeNET | Detail |
| The prostate is an androgen-regulated organ and polymorphisms in genes involved in testosterone synt... | DisGeNET | Detail |
| Cytosine-adenine-guanine repeat length of the androgen receptor gene and the A49T and V89L polymorph... | DisGeNET | Detail |
| No association was observed for the vast majority of polymorphisms, but there was suggestive evidenc... | DisGeNET | Detail |
| The CYP17 MspA1 I polymorphism has been associated with increased prostate cancer risk, and the SRD5... | DisGeNET | Detail |
| The SRD5A2 high-activity allele variants A49T AT and V89L LL were more frequent in CaP-patients comp... | DisGeNET | Detail |
| SRD5A2 V89L polymorphism and prostate cancer risk: a meta-analysis. | DisGeNET | Detail |
| Low-activity V89L variant in SRD5A2 is associated with aggressive prostate cancer risk: an explanati... | DisGeNET | Detail |
| Micropenis and the 5alpha-reductase-2 (SRD5A2) gene: mutation and V89L polymorphism analysis in 81 J... | DisGeNET | Detail |
| Our results indicate that the SRD5A2 V89L VV genotype interacts with VDR FokI TT/CT genotypes in NHW... | DisGeNET | Detail |
| The aim of the present study was to evaluate the distribution of polymorphisms for the androgen rece... | DisGeNET | Detail |
| V89L polymorphism of the 5alpha-reductase Type II gene (SRD5A2), endogenous sex hormones, and prosta... | DisGeNET | Detail |
| The CYP17 MspA1 I polymorphism has been associated with increased prostate cancer risk, and the SRD5... | DisGeNET | Detail |
| The aim of the present study was to evaluate the distribution of polymorphisms for the androgen rece... | DisGeNET | Detail |
| The aim of the present study was to evaluate the distribution of polymorphisms for the androgen rece... | DisGeNET | Detail |
| Steroid 5-alpha-reductase type 2 (SRD5A2) V89L and A49T polymorphisms and sporadic prostate cancer r... | DisGeNET | Detail |
| The SRD5A2 polymorphisms A49T, V89L and R227Q, the androgen receptor CAG and GGN repeats and sex hor... | DisGeNET | Detail |
| The aim of the present study was to evaluate the distribution of polymorphisms for the androgen rece... | DisGeNET | Detail |
| The aim of the present study was to evaluate the distribution of polymorphisms for the androgen rece... | DisGeNET | Detail |
| Cytosine-adenine-guanine repeat length of the androgen receptor gene and the A49T and V89L polymorph... | DisGeNET | Detail |
| In men with a clinical diagnosis of benign prostatic hyperplasia (BPH), polytomous logistic regressi... | DisGeNET | Detail |
| Steroid 5-alpha-reductase type 2 (SRD5A2) V89L and A49T polymorphisms and sporadic prostate cancer r... | DisGeNET | Detail |
| Increasing studies investigating the association between steroid 5-alpha reductase type II gene poly... | DisGeNET | Detail |
| The SRD5A2 high-activity allele variants A49T AT and V89L LL were more frequent in CaP-patients comp... | DisGeNET | Detail |
| V89L polymorphism of the 5alpha-reductase Type II gene (SRD5A2), endogenous sex hormones, and prosta... | DisGeNET | Detail |
| V89L polymorphism of the 5alpha-reductase Type II gene (SRD5A2), endogenous sex hormones, and prosta... | DisGeNET | Detail |
| Low-activity V89L variant in SRD5A2 is associated with aggressive prostate cancer risk: an explanati... | DisGeNET | Detail |
| The aim of the present study was to evaluate the distribution of polymorphisms for the androgen rece... | DisGeNET | Detail |
| Our results indicate that the SRD5A2 V89L VV genotype interacts with VDR FokI TT/CT genotypes in NHW... | DisGeNET | Detail |
| Increasing studies investigating the association between steroid 5-alpha reductase type II gene poly... | DisGeNET | Detail |
| SRD5A2 V89L polymorphism and prostate cancer risk: a meta-analysis. | DisGeNET | Detail |
| The prostate is an androgen-regulated organ and polymorphisms in genes involved in testosterone synt... | DisGeNET | Detail |
| Longer (TA)n repeat but not A49T and V89L polymorphisms in SRD5A2 gene may confer prostate cancer ri... | DisGeNET | Detail |
| Longer (TA)n repeat but not A49T and V89L polymorphisms in SRD5A2 gene may confer prostate cancer ri... | DisGeNET | Detail |
| The SRD5A2 polymorphisms A49T, V89L and R227Q, the androgen receptor CAG and GGN repeats and sex hor... | DisGeNET | Detail |
| Micropenis and the 5alpha-reductase-2 (SRD5A2) gene: mutation and V89L polymorphism analysis in 81 J... | DisGeNET | Detail |
| The prostate is an androgen-regulated organ and polymorphisms in genes involved in testosterone synt... | DisGeNET | Detail |
| No association was observed for the vast majority of polymorphisms, but there was suggestive evidenc... | DisGeNET | Detail |
| We also found no evidence of a gene-gene interaction between CYP17 and SRD5A2 V89L polymorphisms on ... | DisGeNET | Detail |
| V89L polymorphism of the 5alpha-reductase Type II gene (SRD5A2), endogenous sex hormones, and prosta... | DisGeNET | Detail |
| Our results do not support the hypothesis that the V89L and A49T polymorphisms in the SRD5A2 gene ar... | DisGeNET | Detail |
| Furthermore, SRD5A2 rs523349 polymorphism may be a promising biomarker for metastatic prostate cance... | DisGeNET | Detail |
| The Leu allele of the Val89Leu variant in SRD5A2 was associated with protection against PCOS; this a... | DisGeNET | Detail |
| The aim of the present study was to evaluate the distribution of polymorphisms for the androgen rece... | DisGeNET | Detail |
| Gene-environment interactions were identified for rs523349 in SRD5A2 with estrogen exposure and mate... | DisGeNET | Detail |
| Gene-environment interactions were identified for rs523349 in SRD5A2 with estrogen exposure and mate... | 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
- rs523349 dbSNP
- Genome
- hg19
- Position
- chr2:31,805,706-31,805,706
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1136
- Mean of sample read depth (HGVD)
- 35.23
- Standard deviation of sample read depth (HGVD)
- 16.41
- Number of reference allele (HGVD)
- 1010
- Number of alternative allele (HGVD)
- 1261
- Allele Frequency (HGVD)
- 0.5552619991193307
- Gene Symbol (HGVD)
- SRD5A2
- 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))
- rs523349
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.5693
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 9541
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
- East Asian Chromosome Counts (ExAC)
- 4868
- East Asian Allele Counts (ExAC)
- 2627
- East Asian Heterozygous Counts (ExAC)
- 1487
- East Asian Homozygous Counts (ExAC)
- 570
- East Asian Allele Frequency (ExAC)
- 0.5396466721446179
- Chromosome Counts in All Race (ExAC)
- 76880
- Allele Counts in All Race (ExAC)
- 53809
- Heterozygous Counts in All Race (ExAC)
- 18503
- Homozygous Counts in All Race (ExAC)
- 17653
- Allele Frequency in All Race (ExAC)
- 0.6999089490114464
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