rs587782730
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 3 | Carrier of a MUTYH-related familial adenomatous polyposis mutation |
(G;T) | 3 | Carrier of a MUTYH-related familial adenomatous polyposis mutation |
(T;T) | 0 | common in clinvar |
Make rs587782730(C;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 45332916 |
Gene | MUTYH |
is a | snp |
is | mentioned by |
dbSNP | rs587782730 |
dbSNP (classic) | rs587782730 |
ClinGen | rs587782730 |
ebi | rs587782730 |
HLI | rs587782730 |
Exac | rs587782730 |
Gnomad | rs587782730 |
Varsome | rs587782730 |
LitVar | rs587782730 |
Map | rs587782730 |
PheGenI | rs587782730 |
Biobank | rs587782730 |
1000 genomes | rs587782730 |
hgdp | rs587782730 |
ensembl | rs587782730 |
geneview | rs587782730 |
scholar | rs587782730 |
rs587782730 | |
pharmgkb | rs587782730 |
gwascentral | rs587782730 |
openSNP | rs587782730 |
23andMe | rs587782730 |
SNPshot | rs587782730 |
SNPdbe | rs587782730 |
MSV3d | rs587782730 |
GWAS Ctlg | rs587782730 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs587782730(C;C) rs587782730(G;G) |
Alt | rs587782730(C;C) rs587782730(G;G) |
Reference | Rs587782730(T;T) |
Significance | Probable-Pathogenic |
Disease | MYH-associated polyposis Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | MUTYH |
CLNDBN | MYH-associated polyposis Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000001.10:g.45798588A>C; NC_000001.10:g.45798588A>G |
CLNSRC | |
CLNACC | RCV000196093.1, RCV000132227.2, |