chr2:48010488:G>A Detail (hg19) (MSH6)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:48,010,488-48,010,488 |
| hg38 | chr2:47,783,349-47,783,349 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001281492.1:c.116G>A | NP_001268421.1:p.Gly39Glu |
| NM_000179.2:c.116G>A | NP_000170.1:p.Gly39Glu | |
| Ensemble | ENST00000540021.6:c.116G>A | ENST00000540021.6:p.Gly39Glu |
Summary
MGeND
| Clinical significance |
Benign
not provided
|
| Variant entry | 3,310 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.311 |
| ToMMo:0.318 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.290 |
Prediction
ClinVar
| Clinical Significance |
Benign
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
not provided
|
prostate cancer |
germline
|
MGS000060
(TMGS000107) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
brain tumor |
germline
|
MGS000060
(TMGS000107) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
renal pelvis cancer |
germline
|
MGS000060
(TMGS000107) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
Bladder cancer |
germline
|
MGS000060
(TMGS000107) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
small intestinal cancer |
germline
|
MGS000060
(TMGS000107) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
gastric cancer |
germline
|
MGS000060
(TMGS000107) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
colorectal cancer |
germline
|
MGS000060
(TMGS000107) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
Breast cancer |
germline
|
MGS000060
(TMGS000107) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
pancreas cancer |
germline
|
MGS000060
(TMGS000107) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
skin tumor |
germline
|
MGS000060
(TMGS000107) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
Endometrial cancer |
germline
|
MGS000060
(TMGS000107) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
billiary tract cancer |
germline
|
MGS000060
(TMGS000107) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
Ovarian cancer |
germline
|
MGS000060
(TMGS000107) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
cancer |
germline
|
MGS000060
(TMGS000107) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
Benign
|
2020/04/20 | cervical part of oesophagus |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | upper third of oesophagus |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | middle third of oesophagus |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | lower third of oesophagus |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | oesophagus, unspecified |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | fundus of stomach |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | body of stomach |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | pyloric antrum |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | stomach, unspecified |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | duodenum |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | jejunum |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | ileum |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | small intestine, unspecified |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | caecum |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | appendix |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | ascending colon |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | transverse colon |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | descending colon |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | sigmoid colon |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | colon, unspecified |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | malignant neoplasm of rectosigmoid junction |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | malignant neoplasm of rectum |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | anal canal |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | liver cell carcinoma |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | intrahepatic bile duct carcinoma |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | malignant neoplasm of gallbladder |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | extrahepatic bile duct |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | ampulla of vater |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | head of pancreas |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | body of pancreas |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | tail of pancreas |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | ill-defined sites within the digestive system |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | bronchus or lung, unspecified |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | retroperitoneum |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | other |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
2013-09-05 | reviewed by expert panel | Lynch syndrome |
germline
|
Detail |
|
Benign
|
2023-11-30 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Benign
|
2016-02-29 | criteria provided, multiple submitters, no conflicts | not specified |
germline
unknown
|
Detail |
|
Benign
|
2019-12-11 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Benign
|
2017-08-18 | criteria provided, single submitter | Lynch syndrome 1 |
germline
|
Detail |
Benign
Likely benign
|
2023-07-07 | criteria provided, multiple submitters, no conflicts | Lynch syndrome 5 |
germline
unknown
|
Detail |
|
Benign
|
2024-02-01 | criteria provided, single submitter | Hereditary nonpolyposis colorectal neoplasms |
germline
|
Detail |
|
Benign
|
2019-01-01 | criteria provided, single submitter | breast carcinoma |
unknown
|
Detail |
|
Benign
|
no assertion criteria provided | Carcinoma of colon |
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.085 | Malignant neoplasm of breast | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
| <0.001 | breast carcinoma | Using unconditional logistic regression we found that MLH3 (L844P, G>A) polym... | BeFree | 19781088 | Detail |
| 0.004 | breast carcinoma | Using unconditional logistic regression we found that MLH3 (L844P, G>A) polym... | BeFree | 19781088 | Detail |
| 0.006 | Malignant tumor of colon | The MSH6 Gly39Glu and MLH1 -93G>A polymorphisms were associated with risk of ... | BeFree | 18523027 | Detail |
| 0.008 | breast carcinoma | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
| 0.015 | Malignant neoplasm of breast | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
| 0.013 | Malignant neoplasm of breast | Using unconditional logistic regression we found that MLH3 (L844P, G>A) polym... | BeFree | 19781088 | Detail |
| 0.277 | Hereditary Nonpolyposis Colorectal Cancer | Although the MSH6 G39E polymorphism is considered to be a biomarker of hereditar... | BeFree | 24622885 | Detail |
| 0.011 | breast carcinoma | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
| <0.001 | Triple Negative Breast Neoplasms | Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 R41... | BeFree | 25023197 | Detail |
| 0.003 | Malignant neoplasm of breast | Using unconditional logistic regression we found that MLH3 (L844P, G>A) polym... | BeFree | 19781088 | Detail |
| 0.008 | breast carcinoma | Using unconditional logistic regression we found that MLH3 (L844P, G>A) polym... | BeFree | 19781088 | Detail |
| <0.001 | breast carcinoma | Using unconditional logistic regression we found that MLH3 (L844P, G>A) polym... | BeFree | 19781088 | Detail |
| 0.002 | adenoma | In a Minnesota-based case-control study of individuals with adenomas (N=401), hy... | BeFree | 16771955 | Detail |
| 0.002 | breast carcinoma | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
| 0.009 | Malignant neoplasm of breast | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
| 0.019 | Malignant neoplasm of breast | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
| 0.001 | breast carcinoma | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
| 0.004 | breast carcinoma | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
| <0.001 | Triple Negative Breast Neoplasms | Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 R41... | BeFree | 25023197 | Detail |
| <0.001 | polyps | In a Minnesota-based case-control study of individuals with adenomas (N=401), hy... | BeFree | 16771955 | Detail |
| 0.018 | breast carcinoma | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
| 0.006 | Malignant tumor of colon | MSH6 G39E polymorphism and CpG island methylator phenotype in colon cancer. | BeFree | 19582761 | Detail |
| <0.001 | Triple Negative Breast Neoplasms | Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 R41... | BeFree | 25023197 | Detail |
| <0.001 | Hyperplastic Polyp | In a Minnesota-based case-control study of individuals with adenomas (N=401), hy... | BeFree | 16771955 | Detail |
| <0.001 | Malignant neoplasm of breast | Using unconditional logistic regression we found that MLH3 (L844P, G>A) polym... | BeFree | 19781088 | Detail |
| 0.005 | colon carcinoma | MSH6 G39E polymorphism and CpG island methylator phenotype in colon cancer. | BeFree | 19582761 | Detail |
| 0.024 | Malignant tumor of colon | The MSH6 Gly39Glu and MLH1 -93G>A polymorphisms were associated with risk of ... | BeFree | 18523027 | Detail |
| 0.023 | Malignant neoplasm of breast | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
| 0.013 | Malignant neoplasm of breast | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
| 0.002 | breast carcinoma | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
| 0.013 | polyps | In a Minnesota-based case-control study of individuals with adenomas (N=401), hy... | BeFree | 16771955 | Detail |
| <0.001 | Triple Negative Breast Neoplasms | Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 R41... | BeFree | 25023197 | Detail |
| 0.098 | Malignant neoplasm of breast | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
| <0.001 | Malignant neoplasm of pancreas | Although the MSH6 G39E polymorphism is considered to be a biomarker of hereditar... | BeFree | 24622885 | Detail |
| <0.001 | Triple Negative Breast Neoplasms | Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 R41... | BeFree | 25023197 | Detail |
| <0.001 | Triple Negative Breast Neoplasms | Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 R41... | BeFree | 25023197 | Detail |
| <0.001 | Polyp of large intestine | In a Minnesota-based case-control study of individuals with adenomas (N=401), hy... | BeFree | 16771955 | Detail |
| 0.015 | Malignant neoplasm of breast | Using unconditional logistic regression we found that MLH3 (L844P, G>A) polym... | BeFree | 19781088 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000179.3(MSH6):c.116G>A (p.Gly39Glu) AND Lynch syndrome | ClinVar | Detail |
| NM_000179.3(MSH6):c.116G>A (p.Gly39Glu) AND not provided | ClinVar | Detail |
| NM_000179.3(MSH6):c.116G>A (p.Gly39Glu) AND not specified | ClinVar | Detail |
| NM_000179.3(MSH6):c.116G>A (p.Gly39Glu) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_000179.3(MSH6):c.116G>A (p.Gly39Glu) AND Lynch syndrome 1 | ClinVar | Detail |
| NM_000179.3(MSH6):c.116G>A (p.Gly39Glu) AND Lynch syndrome 5 | ClinVar | Detail |
| NM_000179.3(MSH6):c.116G>A (p.Gly39Glu) AND Hereditary nonpolyposis colorectal neoplasms | ClinVar | Detail |
| NM_000179.3(MSH6):c.116G>A (p.Gly39Glu) AND Breast carcinoma | ClinVar | Detail |
| NM_000179.3(MSH6):c.116G>A (p.Gly39Glu) AND Carcinoma of colon | ClinVar | Detail |
| Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... | DisGeNET | Detail |
| Using unconditional logistic regression we found that MLH3 (L844P, G>A) polymorphism GA (Leu/Pro)... | DisGeNET | Detail |
| Using unconditional logistic regression we found that MLH3 (L844P, G>A) polymorphism GA (Leu/Pro)... | DisGeNET | Detail |
| The MSH6 Gly39Glu and MLH1 -93G>A polymorphisms were associated with risk of overall colon and MS... | DisGeNET | Detail |
| Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... | DisGeNET | Detail |
| Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... | DisGeNET | Detail |
| Using unconditional logistic regression we found that MLH3 (L844P, G>A) polymorphism GA (Leu/Pro)... | DisGeNET | Detail |
| Although the MSH6 G39E polymorphism is considered to be a biomarker of hereditary nonpolyposis color... | DisGeNET | Detail |
| Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... | DisGeNET | Detail |
| Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 R415Q (rs1800067), MSH3... | DisGeNET | Detail |
| Using unconditional logistic regression we found that MLH3 (L844P, G>A) polymorphism GA (Leu/Pro)... | DisGeNET | Detail |
| Using unconditional logistic regression we found that MLH3 (L844P, G>A) polymorphism GA (Leu/Pro)... | DisGeNET | Detail |
| Using unconditional logistic regression we found that MLH3 (L844P, G>A) polymorphism GA (Leu/Pro)... | DisGeNET | Detail |
| In a Minnesota-based case-control study of individuals with adenomas (N=401), hyperplastic polyps (N... | DisGeNET | Detail |
| Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... | DisGeNET | Detail |
| Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... | DisGeNET | Detail |
| Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... | DisGeNET | Detail |
| Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... | DisGeNET | Detail |
| Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... | DisGeNET | Detail |
| Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 R415Q (rs1800067), MSH3... | DisGeNET | Detail |
| In a Minnesota-based case-control study of individuals with adenomas (N=401), hyperplastic polyps (N... | DisGeNET | Detail |
| Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... | DisGeNET | Detail |
| MSH6 G39E polymorphism and CpG island methylator phenotype in colon cancer. | DisGeNET | Detail |
| Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 R415Q (rs1800067), MSH3... | DisGeNET | Detail |
| In a Minnesota-based case-control study of individuals with adenomas (N=401), hyperplastic polyps (N... | DisGeNET | Detail |
| Using unconditional logistic regression we found that MLH3 (L844P, G>A) polymorphism GA (Leu/Pro)... | DisGeNET | Detail |
| MSH6 G39E polymorphism and CpG island methylator phenotype in colon cancer. | DisGeNET | Detail |
| The MSH6 Gly39Glu and MLH1 -93G>A polymorphisms were associated with risk of overall colon and MS... | DisGeNET | Detail |
| Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... | DisGeNET | Detail |
| Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... | DisGeNET | Detail |
| Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... | DisGeNET | Detail |
| In a Minnesota-based case-control study of individuals with adenomas (N=401), hyperplastic polyps (N... | DisGeNET | Detail |
| Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 R415Q (rs1800067), MSH3... | DisGeNET | Detail |
| Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... | DisGeNET | Detail |
| Although the MSH6 G39E polymorphism is considered to be a biomarker of hereditary nonpolyposis color... | DisGeNET | Detail |
| Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 R415Q (rs1800067), MSH3... | DisGeNET | Detail |
| Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 R415Q (rs1800067), MSH3... | DisGeNET | Detail |
| In a Minnesota-based case-control study of individuals with adenomas (N=401), hyperplastic polyps (N... | DisGeNET | Detail |
| Using unconditional logistic regression we found that MLH3 (L844P, G>A) polymorphism GA (Leu/Pro)... | 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
- rs1042821 dbSNP
- Genome
- hg19
- Position
- chr2:48,010,488-48,010,488
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1185
- Mean of sample read depth (HGVD)
- 127.96
- Standard deviation of sample read depth (HGVD)
- 64.77
- Number of reference allele (HGVD)
- 1633
- Number of alternative allele (HGVD)
- 736
- Allele Frequency (HGVD)
- 0.3106796116504854
- Gene Symbol (HGVD)
- MSH6
- 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))
- rs1042821
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.3178
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 5325
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16754
- East Asian Chromosome Counts (ExAC)
- 6792
- East Asian Allele Counts (ExAC)
- 1973
- East Asian Heterozygous Counts (ExAC)
- 1511
- East Asian Homozygous Counts (ExAC)
- 231
- East Asian Allele Frequency (ExAC)
- 0.29048881036513546
- Chromosome Counts in All Race (ExAC)
- 91130
- Allele Counts in All Race (ExAC)
- 19510
- Heterozygous Counts in All Race (ExAC)
- 15722
- Homozygous Counts in All Race (ExAC)
- 1894
- Allele Frequency in All Race (ExAC)
- 0.2140897618786349
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