rs587783057
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | Carrier of a MUTYH-related familial adenomatous polyposis mutation |
Make rs587783057(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 45331676 |
Gene | MUTYH |
is a | snp |
is | mentioned by |
dbSNP | rs587783057 |
dbSNP (classic) | rs587783057 |
ClinGen | rs587783057 |
ebi | rs587783057 |
HLI | rs587783057 |
Exac | rs587783057 |
Gnomad | rs587783057 |
Varsome | rs587783057 |
LitVar | rs587783057 |
Map | rs587783057 |
PheGenI | rs587783057 |
Biobank | rs587783057 |
1000 genomes | rs587783057 |
hgdp | rs587783057 |
ensembl | rs587783057 |
geneview | rs587783057 |
scholar | rs587783057 |
rs587783057 | |
pharmgkb | rs587783057 |
gwascentral | rs587783057 |
openSNP | rs587783057 |
23andMe | rs587783057 |
SNPshot | rs587783057 |
SNPdbe | rs587783057 |
MSV3d | rs587783057 |
GWAS Ctlg | rs587783057 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs587783057(T;T) |
Alt | rs587783057(T;T) |
Reference | Rs587783057(C;C) |
Significance | Pathogenic |
Disease | Carcinoma of colon MYH-associated polyposis not provided |
Variation | info |
Gene | MUTYH |
CLNDBN | Carcinoma of colon MYH-associated polyposis not provided |
Reversed | 1 |
HGVS | NC_000001.10:g.45797348G>A |
CLNSRC | |
CLNACC | RCV000144635.1, RCV000410310.1, RCV000413062.1, |