rs529008617
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | Carrier of a MUTYH-related familial adenomatous polyposis mutation |
| (G;G) | 0 | common in clinvar |
| Make rs529008617(A;A) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 1 |
| Position | 45331529 |
| Gene | MUTYH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs529008617 |
| dbSNP (classic) | rs529008617 |
| ClinGen | rs529008617 |
| ebi | rs529008617 |
| HLI | rs529008617 |
| Exac | rs529008617 |
| Gnomad | rs529008617 |
| Varsome | rs529008617 |
| LitVar | rs529008617 |
| Map | rs529008617 |
| PheGenI | rs529008617 |
| Biobank | rs529008617 |
| 1000 genomes | rs529008617 |
| hgdp | rs529008617 |
| ensembl | rs529008617 |
| geneview | rs529008617 |
| scholar | rs529008617 |
| rs529008617 | |
| pharmgkb | rs529008617 |
| gwascentral | rs529008617 |
| openSNP | rs529008617 |
| 23andMe | rs529008617 |
| SNPshot | rs529008617 |
| SNPdbe | rs529008617 |
| MSV3d | rs529008617 |
| GWAS Ctlg | rs529008617 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs529008617(A;A) |
| Alt | rs529008617(A;A) |
| Reference | Rs529008617(G;G) |
| Significance | Pathogenic |
| Disease | Hereditary cancer-predisposing syndrome Carcinoma of colon MYH-associated polyposis not provided |
| Variation | info |
| Gene | MUTYH |
| CLNDBN | Hereditary cancer-predisposing syndrome Carcinoma of colon MYH-associated polyposis not provided |
| Reversed | 0 |
| HGVS | NC_000001.10:g.45797201G>A |
| CLNSRC | Ambry Genetics ClinVar |
| CLNACC | RCV000131914.5, RCV000144633.1, RCV000191934.2, RCV000413961.1, |
