chr19:45420395:A>G Detail (hg38) (ERCC1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr19:45,923,653-45,923,653 View the variant detail on this assembly version. |
| hg38 | chr19:45,420,395-45,420,395 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_202001.2:c.354T>C | NP_973730.1:p.Asn118= |
| NM_001983.3:c.354T>C | NP_001974.1:p.Asn118= | |
| NM_001166049.1:c.354T>C | NP_001159521.1:p.Asn118= |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.704 |
| ToMMo:0.714 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.737 |
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
|
2024-01-30 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.006 | breast carcinoma | Gene-gene interaction analysis showed that subjects carrying ERCC1 rs11615 C all... | BeFree | 24582975 | Detail |
| 0.156 | Non-small cell lung carcinoma | Multivariate Cox regression analysis showed that ERCC1 rs11615 AA genotype (P = ... | BeFree | 24933103 | Detail |
| 0.003 | Malignant neoplasm of larynx | In summary, we suggest that genetic variations in ERCC1 rs11615 and ERCC5 rs1765... | BeFree | 24563277 | Detail |
| 0.010 | Malignant neoplasm of stomach | By the Cox analysis, the CC genotype of ERCC1 rs11615, AA genotype of ERCC2 rs17... | BeFree | 25542228 | Detail |
| 0.156 | Non-small cell lung carcinoma | In conclusion, ERCC1 rs11615 and rs3212986 polymorphism were associated with a p... | BeFree | 24859833 | Detail |
| 0.084 | Carcinoma of lung | Furthermore, a significant effect of SNPs in nucleotide excision repair pathway ... | BeFree | 21739480 | Detail |
| 0.014 | Esophageal Neoplasms | Furthermore, a considerable correlation was observed between ERCC1 rs11615 and t... | BeFree | 26426637 | Detail |
| <0.001 | Carcinoma of larynx | In summary, we suggest that genetic variations in ERCC1 rs11615 and ERCC5 rs1765... | BeFree | 24563277 | Detail |
| 0.156 | Non-small cell lung carcinoma | We investigated the association of three DNA repair gene polymorphisms - Asn118A... | BeFree | 21766907 | Detail |
| 0.002 | esophageal carcinoma | Single nucleotide polymorphisms of ERCC1 (rs11615) could therefore be applied to... | BeFree | 21956434 | Detail |
| 0.002 | Carcinoma of lung | A specific diplotype defined by PPP1R13L rs1970764, CD3EAP rs967591 and ERCC1 rs... | BeFree | 22335888 | Detail |
| 0.001 | colorectal cancer | To summarize published data on the association between polymorphisms of NER gene... | BeFree | 21278243 | Detail |
| 0.008 | Carcinoma of lung | A specific diplotype defined by PPP1R13L rs1970764, CD3EAP rs967591 and ERCC1 rs... | BeFree | 22335888 | Detail |
| 0.002 | Carcinogenesis | Two polymorphisms of ERCC1, T19007C (rs11615) and C8092A (rs3212986), have been ... | BeFree | 19361884 | Detail |
| 0.002 | Carcinoma of lung | A specific diplotype defined by PPP1R13L rs1970764, CD3EAP rs967591 and ERCC1 rs... | BeFree | 22335888 | Detail |
| 0.018 | Malignant neoplasm of breast | Gene-gene interaction analysis showed that subjects carrying ERCC1 rs11615 C all... | BeFree | 24582975 | Detail |
| 0.003 | Xeroderma pigmentosum, group F | We investigated the association between polymorphisms in excision repair cross-c... | BeFree | 24861646 | Detail |
| <0.001 | stomach carcinoma | In conclusion, our results suggest that ERCC1 rs11615, ERCC2 rs1799793, and NBN ... | BeFree | 25542228 | Detail |
| 0.019 | Malignant neoplasm of breast | Gene-gene interaction analysis showed that subjects carrying ERCC1 rs11615 C all... | BeFree | 24582975 | Detail |
| 0.006 | colorectal cancer | We investigated the association between polymorphisms in excision repair cross-c... | BeFree | 24861646 | Detail |
| 0.014 | Esophageal Neoplasms | Single nucleotide polymorphisms of ERCC1 (rs11615) could therefore be applied to... | BeFree | 21956434 | Detail |
| 0.003 | Xeroderma pigmentosum, group F | In conclusion, we found that ERCC1 rs11615 and XPF rs2276465 may substantially c... | BeFree | 24793015 | Detail |
| <0.001 | Osteosarcoma of bone | Excision repair cross-complementing (ERCC) group 2 (XPD; rs13181 and rs1799793),... | BeFree | 21826087 | Detail |
| 0.001 | glioblastoma | Furthermore, the haplotype containing the C allele of ERCC2 rs13181 polymorphism... | BeFree | 24325908 | Detail |
| 0.002 | breast carcinoma | Gene-gene interaction analysis showed that subjects carrying ERCC1 rs11615 C all... | BeFree | 24582975 | Detail |
| 0.003 | Malignant neoplasm of larynx | In summary, we suggest that genetic variations in ERCC1 rs11615 and ERCC5 rs1765... | BeFree | 24563277 | Detail |
| 0.012 | Malignant neoplasm of esophagus | Single nucleotide polymorphisms of ERCC1 (rs11615) could therefore be applied to... | BeFree | 21956434 | Detail |
| 0.002 | Colorectal cancer metastatic | We retrospectively investigated pharmacogenomic characteristics of OXCPN in 70 J... | BeFree | 23547850 | Detail |
| 0.002 | Osteosarcoma of bone | Excision repair cross-complementing (ERCC) group 2 (XPD; rs13181 and rs1799793),... | BeFree | 21826087 | Detail |
| <0.001 | Carcinoma of larynx | In conclusion, our study suggests that ERCC1 rs11615 and ERCC5 rs17655 polymorph... | BeFree | 24582975 | Detail |
| 0.012 | Malignant neoplasm of stomach | In conclusion, our results suggest that ERCC1 rs11615, ERCC2 rs1799793, and NBN ... | BeFree | 25542228 | Detail |
| 0.003 | osteosarcoma | In conclusion, our results suggest that ERCC1 rs11615 polymorphism in the DNA re... | BeFree | 25755792 | Detail |
| 0.003 | Colorectal cancer metastatic | We retrospectively investigated pharmacogenomic characteristics of OXCPN in 70 J... | BeFree | 23547850 | Detail |
| <0.001 | Carcinoma of larynx | In summary, we suggest that genetic variations in ERCC1 rs11615 and ERCC5 rs1765... | BeFree | 24563277 | Detail |
| 0.012 | Malignant neoplasm of esophagus | Furthermore, a considerable correlation was observed between ERCC1 rs11615 and t... | BeFree | 26426637 | Detail |
| 0.002 | Xeroderma Pigmentosum, Complementation Group D | The correlation between ERCC1 polymorphisms (rs11615 and rs3212986) and XPD poly... | BeFree | 26426637 | Detail |
| 0.003 | Malignant neoplasm of stomach | In conclusion, our results suggest that ERCC1 rs11615, ERCC2 rs1799793, and NBN ... | BeFree | 25542228 | Detail |
| <0.001 | colorectal carcinoma | We investigated the association between polymorphisms in excision repair cross-c... | BeFree | 24861646 | Detail |
| <0.001 | Prostate Cancer, Hereditary, 7 | SNPs rs11615 (ERCC1) and rs17503908 (ATM) appeared as risk factors for prostate ... | BeFree | 25540025 | Detail |
| 0.003 | osteosarcoma | Excision repair cross-complementing (ERCC) group 2 (XPD; rs13181 and rs1799793),... | BeFree | 21826087 | Detail |
| 0.004 | Malignant neoplasm of lung | A specific diplotype defined by PPP1R13L rs1970764, CD3EAP rs967591 and ERCC1 rs... | BeFree | 22335888 | Detail |
| 0.004 | osteosarcoma | Excision repair cross-complementing (ERCC) group 2 (XPD; rs13181 and rs1799793),... | BeFree | 21826087 | Detail |
| 0.002 | esophageal carcinoma | Furthermore, a considerable correlation was observed between ERCC1 rs11615 and t... | BeFree | 26426637 | Detail |
| 0.003 | Malignant neoplasm of larynx | In conclusion, our study suggests that ERCC1 rs11615 and ERCC5 rs17655 polymorph... | BeFree | 24582975 | Detail |
| <0.001 | Osteosarcoma of bone | In conclusion, our results suggest that ERCC1 rs11615 polymorphism in the DNA re... | BeFree | 25755792 | Detail |
| 0.008 | Carcinoma of lung | Furthermore, a significant effect of SNPs in nucleotide excision repair pathway ... | BeFree | 21739480 | Detail |
| 0.009 | stomach carcinoma | By the Cox analysis, the CC genotype of ERCC1 rs11615, AA genotype of ERCC2 rs17... | BeFree | 25542228 | Detail |
| 0.067 | Malignant neoplasm of lung | Furthermore, a significant effect of SNPs in nucleotide excision repair pathway ... | BeFree | 21739480 | Detail |
| 0.444 | Xeroderma pigmentosum, group F | We investigated the association between polymorphisms in excision repair cross-c... | BeFree | 24861646 | Detail |
| 0.007 | Malignant neoplasm of lung | A specific diplotype defined by PPP1R13L rs1970764, CD3EAP rs967591 and ERCC1 rs... | BeFree | 22335888 | Detail |
| 0.002 | stomach carcinoma | In conclusion, our results suggest that ERCC1 rs11615, ERCC2 rs1799793, and NBN ... | BeFree | 25542228 | Detail |
| 0.044 | Malignant neoplasm of lung | Furthermore, a significant effect of SNPs in nucleotide excision repair pathway ... | BeFree | 21739480 | Detail |
| 0.002 | Non-small cell lung carcinoma | We investigated the association of three DNA repair gene polymorphisms - Asn118A... | BeFree | 21766907 | Detail |
| 0.067 | Malignant neoplasm of lung | A specific diplotype defined by PPP1R13L rs1970764, CD3EAP rs967591 and ERCC1 rs... | BeFree | 22335888 | Detail |
| 0.005 | Non-small cell lung carcinoma | We investigated the association of three DNA repair gene polymorphisms - Asn118A... | BeFree | 21766907 | Detail |
| 0.001 | colorectal carcinoma | To summarize published data on the association between polymorphisms of NER gene... | BeFree | 21278243 | Detail |
| 0.042 | breast carcinoma | We aimed to determine the associations of genetic polymorphisms of excision repa... | BeFree | 24933103 | Detail |
| 0.005 | Non-small cell lung carcinoma | We aimed to determine the associations of genetic polymorphisms of excision repa... | BeFree | 24933103 | Detail |
| 0.012 | Non-small cell lung carcinoma | We aimed to determine the associations of genetic polymorphisms of excision repa... | BeFree | 24933103 | Detail |
| 0.002 | Xeroderma Pigmentosum, Complementation Group D | We aimed to determine the associations of genetic polymorphisms of excision repa... | BeFree | 24933103 | Detail |
| 0.098 | Malignant neoplasm of breast | We aimed to determine the associations of genetic polymorphisms of excision repa... | BeFree | 24933103 | Detail |
| 0.080 | breast carcinoma | We aimed to determine the associations of genetic polymorphisms of excision repa... | BeFree | 24933103 | Detail |
| 0.018 | Malignant neoplasm of breast | We aimed to determine the associations of genetic polymorphisms of excision repa... | BeFree | 24933103 | Detail |
| 0.005 | Non-small cell lung carcinoma | We aimed to determine the associations of genetic polymorphisms of excision repa... | BeFree | 24933103 | Detail |
| 0.084 | Malignant neoplasm of breast | We aimed to determine the associations of genetic polymorphisms of excision repa... | BeFree | 24933103 | Detail |
| 0.018 | breast carcinoma | We aimed to determine the associations of genetic polymorphisms of excision repa... | BeFree | 24933103 | Detail |
| 0.011 | breast carcinoma | We aimed to determine the associations of genetic polymorphisms of excision repa... | BeFree | 24933103 | Detail |
| 0.360 | Malignant neoplasm of breast | We aimed to determine the associations of genetic polymorphisms of excision repa... | BeFree | 24933103 | Detail |
| 0.097 | Malignant neoplasm of breast | We aimed to determine the associations of genetic polymorphisms of excision repa... | BeFree | 24933103 | Detail |
| 0.085 | Malignant neoplasm of breast | We aimed to determine the associations of genetic polymorphisms of excision repa... | BeFree | 24933103 | Detail |
| 0.008 | breast carcinoma | We aimed to determine the associations of genetic polymorphisms of excision repa... | BeFree | 24933103 | Detail |
| 0.006 | breast carcinoma | We aimed to determine the associations of genetic polymorphisms of excision repa... | BeFree | 24933103 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_001983.4(ERCC1):c.354T>C (p.Asn118=) AND not provided | ClinVar | Detail |
| Gene-gene interaction analysis showed that subjects carrying ERCC1 rs11615 C allele and XPG/ERCC5 rs... | DisGeNET | Detail |
| Multivariate Cox regression analysis showed that ERCC1 rs11615 AA genotype (P = 0.020) and smoking (... | DisGeNET | Detail |
| In summary, we suggest that genetic variations in ERCC1 rs11615 and ERCC5 rs17655 are associated wit... | DisGeNET | Detail |
| By the Cox analysis, the CC genotype of ERCC1 rs11615, AA genotype of ERCC2 rs1799793, and CC genoty... | DisGeNET | Detail |
| In conclusion, ERCC1 rs11615 and rs3212986 polymorphism were associated with a poor response to chem... | DisGeNET | Detail |
| Furthermore, a significant effect of SNPs in nucleotide excision repair pathway on lung cancer survi... | DisGeNET | Detail |
| Furthermore, a considerable correlation was observed between ERCC1 rs11615 and the response rate of ... | DisGeNET | Detail |
| In summary, we suggest that genetic variations in ERCC1 rs11615 and ERCC5 rs17655 are associated wit... | DisGeNET | Detail |
| We investigated the association of three DNA repair gene polymorphisms - Asn118Asn in ERCC1 (rs11615... | DisGeNET | Detail |
| Single nucleotide polymorphisms of ERCC1 (rs11615) could therefore be applied to further individuali... | DisGeNET | Detail |
| A specific diplotype defined by PPP1R13L rs1970764, CD3EAP rs967591 and ERCC1 rs11615 and lung cance... | DisGeNET | Detail |
| To summarize published data on the association between polymorphisms of NER genes (ERCC1 and ERCC2) ... | DisGeNET | Detail |
| A specific diplotype defined by PPP1R13L rs1970764, CD3EAP rs967591 and ERCC1 rs11615 and lung cance... | DisGeNET | Detail |
| Two polymorphisms of ERCC1, T19007C (rs11615) and C8092A (rs3212986), have been reported to affect b... | DisGeNET | Detail |
| A specific diplotype defined by PPP1R13L rs1970764, CD3EAP rs967591 and ERCC1 rs11615 and lung cance... | DisGeNET | Detail |
| Gene-gene interaction analysis showed that subjects carrying ERCC1 rs11615 C allele and XPG/ERCC5 rs... | DisGeNET | Detail |
| We investigated the association between polymorphisms in excision repair cross-complementation group... | DisGeNET | Detail |
| In conclusion, our results suggest that ERCC1 rs11615, ERCC2 rs1799793, and NBN rs1805794 polymorphi... | DisGeNET | Detail |
| Gene-gene interaction analysis showed that subjects carrying ERCC1 rs11615 C allele and XPG/ERCC5 rs... | DisGeNET | Detail |
| We investigated the association between polymorphisms in excision repair cross-complementation group... | DisGeNET | Detail |
| Single nucleotide polymorphisms of ERCC1 (rs11615) could therefore be applied to further individuali... | DisGeNET | Detail |
| In conclusion, we found that ERCC1 rs11615 and XPF rs2276465 may substantially contribute to the fut... | DisGeNET | Detail |
| Excision repair cross-complementing (ERCC) group 2 (XPD; rs13181 and rs1799793), group 5 (XPG; rs176... | DisGeNET | Detail |
| Furthermore, the haplotype containing the C allele of ERCC2 rs13181 polymorphism and the T allele of... | DisGeNET | Detail |
| Gene-gene interaction analysis showed that subjects carrying ERCC1 rs11615 C allele and XPG/ERCC5 rs... | DisGeNET | Detail |
| In summary, we suggest that genetic variations in ERCC1 rs11615 and ERCC5 rs17655 are associated wit... | DisGeNET | Detail |
| Single nucleotide polymorphisms of ERCC1 (rs11615) could therefore be applied to further individuali... | DisGeNET | Detail |
| We retrospectively investigated pharmacogenomic characteristics of OXCPN in 70 Japanese patients wit... | DisGeNET | Detail |
| Excision repair cross-complementing (ERCC) group 2 (XPD; rs13181 and rs1799793), group 5 (XPG; rs176... | DisGeNET | Detail |
| In conclusion, our study suggests that ERCC1 rs11615 and ERCC5 rs17655 polymorphisms are associated ... | DisGeNET | Detail |
| In conclusion, our results suggest that ERCC1 rs11615, ERCC2 rs1799793, and NBN rs1805794 polymorphi... | DisGeNET | Detail |
| In conclusion, our results suggest that ERCC1 rs11615 polymorphism in the DNA repair pathways play a... | DisGeNET | Detail |
| We retrospectively investigated pharmacogenomic characteristics of OXCPN in 70 Japanese patients wit... | DisGeNET | Detail |
| In summary, we suggest that genetic variations in ERCC1 rs11615 and ERCC5 rs17655 are associated wit... | DisGeNET | Detail |
| Furthermore, a considerable correlation was observed between ERCC1 rs11615 and the response rate of ... | DisGeNET | Detail |
| The correlation between ERCC1 polymorphisms (rs11615 and rs3212986) and XPD polymorphisms (rs13181 a... | DisGeNET | Detail |
| In conclusion, our results suggest that ERCC1 rs11615, ERCC2 rs1799793, and NBN rs1805794 polymorphi... | DisGeNET | Detail |
| We investigated the association between polymorphisms in excision repair cross-complementation group... | DisGeNET | Detail |
| SNPs rs11615 (ERCC1) and rs17503908 (ATM) appeared as risk factors for prostate cancer aggressivenes... | DisGeNET | Detail |
| Excision repair cross-complementing (ERCC) group 2 (XPD; rs13181 and rs1799793), group 5 (XPG; rs176... | DisGeNET | Detail |
| A specific diplotype defined by PPP1R13L rs1970764, CD3EAP rs967591 and ERCC1 rs11615 and lung cance... | DisGeNET | Detail |
| Excision repair cross-complementing (ERCC) group 2 (XPD; rs13181 and rs1799793), group 5 (XPG; rs176... | DisGeNET | Detail |
| Furthermore, a considerable correlation was observed between ERCC1 rs11615 and the response rate of ... | DisGeNET | Detail |
| In conclusion, our study suggests that ERCC1 rs11615 and ERCC5 rs17655 polymorphisms are associated ... | DisGeNET | Detail |
| In conclusion, our results suggest that ERCC1 rs11615 polymorphism in the DNA repair pathways play a... | DisGeNET | Detail |
| Furthermore, a significant effect of SNPs in nucleotide excision repair pathway on lung cancer survi... | DisGeNET | Detail |
| By the Cox analysis, the CC genotype of ERCC1 rs11615, AA genotype of ERCC2 rs1799793, and CC genoty... | DisGeNET | Detail |
| Furthermore, a significant effect of SNPs in nucleotide excision repair pathway on lung cancer survi... | DisGeNET | Detail |
| We investigated the association between polymorphisms in excision repair cross-complementation group... | DisGeNET | Detail |
| A specific diplotype defined by PPP1R13L rs1970764, CD3EAP rs967591 and ERCC1 rs11615 and lung cance... | DisGeNET | Detail |
| In conclusion, our results suggest that ERCC1 rs11615, ERCC2 rs1799793, and NBN rs1805794 polymorphi... | DisGeNET | Detail |
| Furthermore, a significant effect of SNPs in nucleotide excision repair pathway on lung cancer survi... | DisGeNET | Detail |
| We investigated the association of three DNA repair gene polymorphisms - Asn118Asn in ERCC1 (rs11615... | DisGeNET | Detail |
| A specific diplotype defined by PPP1R13L rs1970764, CD3EAP rs967591 and ERCC1 rs11615 and lung cance... | DisGeNET | Detail |
| We investigated the association of three DNA repair gene polymorphisms - Asn118Asn in ERCC1 (rs11615... | DisGeNET | Detail |
| To summarize published data on the association between polymorphisms of NER genes (ERCC1 and ERCC2) ... | DisGeNET | Detail |
| We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa... | DisGeNET | Detail |
| We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa... | DisGeNET | Detail |
| We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa... | DisGeNET | Detail |
| We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa... | DisGeNET | Detail |
| We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa... | DisGeNET | Detail |
| We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa... | DisGeNET | Detail |
| We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa... | DisGeNET | Detail |
| We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa... | DisGeNET | Detail |
| We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa... | DisGeNET | Detail |
| We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa... | DisGeNET | Detail |
| We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa... | DisGeNET | Detail |
| We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa... | DisGeNET | Detail |
| We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa... | DisGeNET | Detail |
| We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa... | DisGeNET | Detail |
| We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa... | DisGeNET | Detail |
| We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa... | 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
- rs11615 dbSNP
- Genome
- hg38
- Position
- chr19:45,420,395-45,420,395
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1207
- Mean of sample read depth (HGVD)
- 66.60
- Standard deviation of sample read depth (HGVD)
- 35.72
- Number of reference allele (HGVD)
- 715
- Number of alternative allele (HGVD)
- 1699
- Allele Frequency (HGVD)
- 0.703811101905551
- Gene Symbol (HGVD)
- ERCC1
- 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))
- rs11615
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.7139
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 11965
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8578
- East Asian Allele Counts (ExAC)
- 6318
- East Asian Heterozygous Counts (ExAC)
- 1708
- East Asian Homozygous Counts (ExAC)
- 2305
- East Asian Allele Frequency (ExAC)
- 0.7365353229190954
- Chromosome Counts in All Race (ExAC)
- 118006
- Allele Counts in All Race (ExAC)
- 60002
- Heterozygous Counts in All Race (ExAC)
- 26124
- Homozygous Counts in All Race (ExAC)
- 16939
- Allele Frequency in All Race (ExAC)
- 0.5084656712370558
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