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rs34289250

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs34289250(C;C)
Make rs34289250(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position61803285
GeneBRIP1
is asnp
is mentioned by
dbSNPrs34289250
dbSNP (classic)rs34289250
ClinGenrs34289250
ebirs34289250
HLIrs34289250
Exacrs34289250
Gnomadrs34289250
Varsomers34289250
LitVarrs34289250
Maprs34289250
PheGenIrs34289250
Biobankrs34289250
1000 genomesrs34289250
hgdprs34289250
ensemblrs34289250
geneviewrs34289250
scholarrs34289250
googlers34289250
pharmgkbrs34289250
gwascentralrs34289250
openSNPrs34289250
23andMers34289250
SNPshotrs34289250
SNPdbers34289250
MSV3drs34289250
GWAS Ctlgrs34289250
GMAF0.002296
Max Magnitude0

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]