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, |