rs63750206
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 6 | Lynch syndrome, pathogenic mutation |
| (C;G) | 6 | Lynch syndrome |
| (G;G) | 0 | common in clinvar |
| (G;T) | 6 | Lynch syndrome, pathogenic mutation |
| Make rs63750206(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 36996701 |
| Gene | MLH1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs63750206 |
| dbSNP (classic) | rs63750206 |
| ClinGen | rs63750206 |
| ebi | rs63750206 |
| HLI | rs63750206 |
| Exac | rs63750206 |
| Gnomad | rs63750206 |
| Varsome | rs63750206 |
| LitVar | rs63750206 |
| Map | rs63750206 |
| PheGenI | rs63750206 |
| Biobank | rs63750206 |
| 1000 genomes | rs63750206 |
| hgdp | rs63750206 |
| ensembl | rs63750206 |
| geneview | rs63750206 |
| scholar | rs63750206 |
| rs63750206 | |
| pharmgkb | rs63750206 |
| gwascentral | rs63750206 |
| openSNP | rs63750206 |
| 23andMe | rs63750206 |
| SNPshot | rs63750206 |
| SNPdbe | rs63750206 |
| MSV3d | rs63750206 |
| GWAS Ctlg | rs63750206 |
| Merged from | Rs121912959 |
| Max Magnitude | 6 |
| ClinVar | |
|---|---|
| Risk | rs63750206(A;A) rs63750206(T;T) |
| Alt | rs63750206(A;A) rs63750206(T;T) |
| Reference | Rs63750206(G;G) |
| Significance | Pathogenic |
| Disease | Lynch syndrome Hereditary cancer-predisposing syndrome not provided Lynch syndrome II Turcot syndrome |
| Variation | info |
| Gene | MLH1 |
| CLNDBN | Lynch syndrome Hereditary cancer-predisposing syndrome not provided Lynch syndrome II Turcot syndrome |
| Reversed | 0 |
| HGVS | NC_000003.11:g.37038192G>A; NC_000003.11:g.37038192G>T |
| CLNSRC | UniProtKB (protein) OMIM Allelic Variant |
| CLNACC | RCV000075474.3, RCV000128871.5, RCV000202032.2, RCV000018618.28, RCV000018619.28, RCV000075475.2, |
