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rs4988345

From SNPedia

Orientationminus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs4988345(C;T)
Make rs4988345(T;T)
ReferenceGRCh38 38.1/142
Chromosome17
Position61847211
GeneBRIP1
is asnp
is mentioned by
dbSNPrs4988345
ebirs4988345
HLIrs4988345
Exacrs4988345
Varsomers4988345
Maprs4988345
PheGenIrs4988345
hapmaprs4988345
1000 genomesrs4988345
hgdprs4988345
ensemblrs4988345
gopubmedrs4988345
geneviewrs4988345
scholarrs4988345
googlers4988345
pharmgkbrs4988345
gwascentralrs4988345
openSNPrs4988345
23andMers4988345
23andMe allrs4988345
SNP Nexus

SNPshotrs4988345
SNPdbers4988345
MSV3drs4988345
GWAS Ctlgrs4988345
GMAF0.003214
Max Magnitude0
? (C;C) (C;T) (T;T) 28

[PMID 23473757] BRIP1 variations analysis reveals their relative importance as genetic susceptibility factor for cervical cancer


[PMID 17342202OA-icon.png] Tagging single nucleotide polymorphisms in the BRIP1 gene and susceptibility to breast and ovarian cancer.


[PMID 19127258OA-icon.png] A recurrent truncating germline mutation in the BRIP1/FANCJ gene and susceptibility to prostate cancer.


[PMID 24301948] Further evidence for the contribution of the BRCA1-interacting protein-terminal helicase 1 (BRIP1) gene in breast cancer susceptibility


ClinVar
Risk rs4988345(T;T)
Alt rs4988345(T;T)
Reference rs4988345(C;C)
Significance Other
Disease not specified Familial cancer of breast Hereditary cancer-predisposing syndrome
Variation info
Gene BRIP1
CLNDBN not specified Familial cancer of breast Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.59924572G>A
CLNSRC Ambry Genetics ClinVar GeneDx
CLNACC RCV000120405.2, RCV000123360.4, RCV000129172.4,