rs863224452
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;G) | 3 | Carrier of a MUTYH-related familial adenomatous polyposis mutation |
Make rs863224452(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 45333172 |
Gene | MUTYH |
is a | snp |
is | mentioned by |
dbSNP | rs863224452 |
dbSNP (classic) | rs863224452 |
ClinGen | rs863224452 |
ebi | rs863224452 |
HLI | rs863224452 |
Exac | rs863224452 |
Gnomad | rs863224452 |
Varsome | rs863224452 |
LitVar | rs863224452 |
Map | rs863224452 |
PheGenI | rs863224452 |
Biobank | rs863224452 |
1000 genomes | rs863224452 |
hgdp | rs863224452 |
ensembl | rs863224452 |
geneview | rs863224452 |
scholar | rs863224452 |
rs863224452 | |
pharmgkb | rs863224452 |
gwascentral | rs863224452 |
openSNP | rs863224452 |
23andMe | rs863224452 |
SNPshot | rs863224452 |
SNPdbe | rs863224452 |
MSV3d | rs863224452 |
GWAS Ctlg | rs863224452 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs863224452(G;G) |
Alt | rs863224452(G;G) |
Reference | Rs863224452(A;A) |
Significance | Probable-Pathogenic |
Disease | MYH-associated polyposis |
Variation | info |
Gene | MUTYH |
CLNDBN | MYH-associated polyposis |
Reversed | 1 |
HGVS | NC_000001.10:g.45798844T>C |
CLNSRC | |
CLNACC | RCV000198184.1, |