rs34289250
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in complete genomics |
Make rs34289250(C;C) |
Make rs34289250(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 61803285 |
Gene | BRIP1 |
is a | snp |
is | mentioned by |
dbSNP | rs34289250 |
dbSNP (classic) | rs34289250 |
ClinGen | rs34289250 |
ebi | rs34289250 |
HLI | rs34289250 |
Exac | rs34289250 |
Gnomad | rs34289250 |
Varsome | rs34289250 |
LitVar | rs34289250 |
Map | rs34289250 |
PheGenI | rs34289250 |
Biobank | rs34289250 |
1000 genomes | rs34289250 |
hgdp | rs34289250 |
ensembl | rs34289250 |
geneview | rs34289250 |
scholar | rs34289250 |
rs34289250 | |
pharmgkb | rs34289250 |
gwascentral | rs34289250 |
openSNP | rs34289250 |
23andMe | rs34289250 |
SNPshot | rs34289250 |
SNPdbe | rs34289250 |
MSV3d | rs34289250 |
GWAS Ctlg | rs34289250 |
GMAF | 0.002296 |
Max Magnitude | 0 |
This SNP is often associated with ovarian cancer in Icelandic women, according to DeCode, however it appears to only due to linkage disequilibrium, the causitive mutation is a more rare indel which does not (yet) have an rs# assigned.
[PMID 24301948] Further evidence for the contribution of the BRCA1-interacting protein-terminal helicase 1 (BRIP1) gene in breast cancer susceptibility
GWAS snp | |
---|---|
PMID | [PMID 21964575] |
Trait | Ovarian cancer |
Title | Mutations in BRIP1 confer high risk of ovarian cancer. |
Risk Allele | C |
P-val | 6E-13 |
Odds Ratio | 7.95 [NR] |