rs730881240
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 6.5 | Familial Adenomatous Polyposis |
Make rs730881240(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 5 |
Position | 112837581 |
Gene | APC |
is a | snp |
is | mentioned by |
dbSNP | rs730881240 |
dbSNP (classic) | rs730881240 |
ClinGen | rs730881240 |
ebi | rs730881240 |
HLI | rs730881240 |
Exac | rs730881240 |
Gnomad | rs730881240 |
Varsome | rs730881240 |
LitVar | rs730881240 |
Map | rs730881240 |
PheGenI | rs730881240 |
Biobank | rs730881240 |
1000 genomes | rs730881240 |
hgdp | rs730881240 |
ensembl | rs730881240 |
geneview | rs730881240 |
scholar | rs730881240 |
rs730881240 | |
pharmgkb | rs730881240 |
gwascentral | rs730881240 |
openSNP | rs730881240 |
23andMe | rs730881240 |
SNPshot | rs730881240 |
SNPdbe | rs730881240 |
MSV3d | rs730881240 |
GWAS Ctlg | rs730881240 |
Max Magnitude | 6.5 |
ClinVar | |
---|---|
Risk | rs730881240(T;T) |
Alt | rs730881240(T;T) |
Reference | Rs730881240(C;C) |
Significance | Pathogenic |
Disease | not provided Familial adenomatous polyposis 1 |
Variation | info |
Gene | APC |
CLNDBN | not provided Familial adenomatous polyposis 1 |
Reversed | 0 |
HGVS | NC_000005.9:g.112173278C>T |
CLNSRC | |
CLNACC | RCV000159538.2, RCV000463708.1, |