rs63749821
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| (-;TA) | 6 | Likely miscall in Ancestry data; otherwise, Lynch syndrome, pathogenic mutation |
| (I;I) | 0 |
| Make rs63749821(TA;TA) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 47803446 |
| Gene | MSH6 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs63749821 |
| dbSNP (classic) | rs63749821 |
| ClinGen | rs63749821 |
| ebi | rs63749821 |
| HLI | rs63749821 |
| Exac | rs63749821 |
| Gnomad | rs63749821 |
| Varsome | rs63749821 |
| LitVar | rs63749821 |
| Map | rs63749821 |
| PheGenI | rs63749821 |
| Biobank | rs63749821 |
| 1000 genomes | rs63749821 |
| hgdp | rs63749821 |
| ensembl | rs63749821 |
| geneview | rs63749821 |
| scholar | rs63749821 |
| rs63749821 | |
| pharmgkb | rs63749821 |
| gwascentral | rs63749821 |
| openSNP | rs63749821 |
| 23andMe | rs63749821 |
| SNPshot | rs63749821 |
| SNPdbe | rs63749821 |
| MSV3d | rs63749821 |
| GWAS Ctlg | rs63749821 |
| Max Magnitude | 6 |
aka c.3198_3199dupTA (p.Ser1067Ilefs) and also c.2806_2807delTA, according to ClinVar; both are pathogenic for Lynch syndrome
| ClinVar | |
|---|---|
| Risk | rs63749821(TA;TA) |
| Alt | rs63749821(TA;TA) |
| Reference | Rs63749821(-;-) |
| Significance | Pathogenic |
| Disease | Lynch syndrome |
| Variation | info |
| Gene | MSH6 |
| CLNDBN | Lynch syndrome |
| Reversed | 0 |
| HGVS | NC_000002.11:g.48030584_48030585dupTA |
| CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
| CLNACC | RCV000074816.2, |
