rs397514031
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6.5 | Familial Adenomatous Polyposis |
(G;G) | 0 | common in clinvar |
Make rs397514031(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 112775628 |
Gene | APC |
is a | snp |
is | mentioned by |
dbSNP | rs397514031 |
dbSNP (classic) | rs397514031 |
ClinGen | rs397514031 |
ebi | rs397514031 |
HLI | rs397514031 |
Exac | rs397514031 |
Gnomad | rs397514031 |
Varsome | rs397514031 |
LitVar | rs397514031 |
Map | rs397514031 |
PheGenI | rs397514031 |
Biobank | rs397514031 |
1000 genomes | rs397514031 |
hgdp | rs397514031 |
ensembl | rs397514031 |
geneview | rs397514031 |
scholar | rs397514031 |
rs397514031 | |
pharmgkb | rs397514031 |
gwascentral | rs397514031 |
openSNP | rs397514031 |
23andMe | rs397514031 |
SNPshot | rs397514031 |
SNPdbe | rs397514031 |
MSV3d | rs397514031 |
GWAS Ctlg | rs397514031 |
Max Magnitude | 6.5 |
ClinVar | |
---|---|
Risk | rs397514031(A;A) rs397514031(C;C) |
Alt | rs397514031(A;A) rs397514031(C;C) |
Reference | Rs397514031(G;G) |
Significance | Pathogenic |
Disease | Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | APC |
CLNDBN | Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome not provided |
Reversed | 0 |
HGVS | NC_000005.9:g.112111325G>A; NC_000005.9:g.112111325G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000878.3, RCV000491238.1, RCV000202202.1, |