rs730880250
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;C) | 6.5 | Familial Adenomatous Polyposis |
(C;C) | 0 | common in clinvar |
Make rs730880250(-;-) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 5 |
Position | 112775683 |
Gene | APC |
is a | snp |
is | mentioned by |
dbSNP | rs730880250 |
dbSNP (classic) | rs730880250 |
ClinGen | rs730880250 |
ebi | rs730880250 |
HLI | rs730880250 |
Exac | rs730880250 |
Gnomad | rs730880250 |
Varsome | rs730880250 |
LitVar | rs730880250 |
Map | rs730880250 |
PheGenI | rs730880250 |
Biobank | rs730880250 |
1000 genomes | rs730880250 |
hgdp | rs730880250 |
ensembl | rs730880250 |
geneview | rs730880250 |
scholar | rs730880250 |
rs730880250 | |
pharmgkb | rs730880250 |
gwascentral | rs730880250 |
openSNP | rs730880250 |
23andMe | rs730880250 |
SNPshot | rs730880250 |
SNPdbe | rs730880250 |
MSV3d | rs730880250 |
GWAS Ctlg | rs730880250 |
Max Magnitude | 6.5 |
ClinVar | |
---|---|
Risk | rs730880250(-;-) |
Alt | rs730880250(-;-) |
Reference | Rs730880250(C;C) |
Significance | Pathogenic |
Disease | Familial adenomatous polyposis 1 |
Variation | info |
Gene | APC |
CLNDBN | Familial adenomatous polyposis 1 |
Reversed | 0 |
HGVS | NC_000005.9:g.112111380delC |
CLNSRC | |
CLNACC | RCV000157585.1, |