rs748274524
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;C) | 6 | Increased cancer risk; ovarian cancer & related |
(C;C) | 0 | common in clinvar |
(C;T) | 6 | Ovarian cancer susceptibility |
Make rs748274524(A;A) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 17 |
Position | 61793596 |
Gene | BRIP1 |
is a | snp |
is | mentioned by |
dbSNP | rs748274524 |
dbSNP (classic) | rs748274524 |
ClinGen | rs748274524 |
ebi | rs748274524 |
HLI | rs748274524 |
Exac | rs748274524 |
Gnomad | rs748274524 |
Varsome | rs748274524 |
LitVar | rs748274524 |
Map | rs748274524 |
PheGenI | rs748274524 |
Biobank | rs748274524 |
1000 genomes | rs748274524 |
hgdp | rs748274524 |
ensembl | rs748274524 |
geneview | rs748274524 |
scholar | rs748274524 |
rs748274524 | |
pharmgkb | rs748274524 |
gwascentral | rs748274524 |
openSNP | rs748274524 |
23andMe | rs748274524 |
SNPshot | rs748274524 |
SNPdbe | rs748274524 |
MSV3d | rs748274524 |
GWAS Ctlg | rs748274524 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs748274524(A;A) rs748274524(T;T) |
Alt | rs748274524(A;A) rs748274524(T;T) |
Reference | Rs748274524(C;C) |
Significance | Probable-Pathogenic |
Disease | Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | BRIP1 |
CLNDBN | Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000017.10:g.59870957C>T |
CLNSRC | |
CLNACC | RCV000216204.1, |