rs2020908
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs2020908(C;G) |
| Make rs2020908(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 47799169 |
| Gene | MSH6 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2020908 |
| dbSNP (classic) | rs2020908 |
| ClinGen | rs2020908 |
| ebi | rs2020908 |
| HLI | rs2020908 |
| Exac | rs2020908 |
| Gnomad | rs2020908 |
| Varsome | rs2020908 |
| LitVar | rs2020908 |
| Map | rs2020908 |
| PheGenI | rs2020908 |
| Biobank | rs2020908 |
| 1000 genomes | rs2020908 |
| hgdp | rs2020908 |
| ensembl | rs2020908 |
| geneview | rs2020908 |
| scholar | rs2020908 |
| rs2020908 | |
| pharmgkb | rs2020908 |
| gwascentral | rs2020908 |
| openSNP | rs2020908 |
| 23andMe | rs2020908 |
| SNPshot | rs2020908 |
| SNPdbe | rs2020908 |
| MSV3d | rs2020908 |
| GWAS Ctlg | rs2020908 |
| GMAF | 0.004132 |
| Max Magnitude | 0 |
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs2020908(G;G) |
| Alt | rs2020908(G;G) |
| Reference | Rs2020908(C;C) |
| Significance | Non-pathogenic |
| Disease | Lynch syndrome not provided not specified Lynch syndrome I Hereditary cancer-predisposing syndrome |
| Variation | info |
| Gene | MSH6 |
| CLNDBN | Lynch syndrome not provided not specified Lynch syndrome I Hereditary cancer-predisposing syndrome |
| Reversed | 0 |
| HGVS | NC_000002.11:g.48026308C>G |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000030259.4, RCV000034490.3, RCV000121576.3, RCV000144628.1, RCV000157762.5, |
[PMID 19389263
] Investigation on the role of nsSNPs in HNPCC genes--a bioinformatics approach.
[PMID 20805886] Unique DNA repair gene variations and potential associations with the primary antibody deficiency syndromes IgAD and CVID.
[PMID 10508] A new form of antihistamine--the H2-receptor antagonist.
[PMID 10537275] Germ-line msh6 mutations in colorectal cancer families.
[PMID 15340264] Genotyping possible polymorphic variants of human mismatch repair genes in healthy Korean individuals and sporadic colorectal cancer patients.
[PMID 17417778] Genetic investigation of DNA-repair pathway genes PMS2, MLH1, MSH2, MSH6, MUTYH, OGG1 and MTH1 in sporadic colon cancer.
[PMID 18566915] Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population.
[PMID 19250818] A new strategy to screen MMR genes in Lynch Syndrome: HA-CAE, MLPA and RT-PCR.
