Have questions? Visit https://www.reddit.com/r/SNPedia

rs4986763

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs4986763(C;C)
Make rs4986763(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position61683635
GeneBRIP1
is asnp
is mentioned by
dbSNPrs4986763
dbSNP (classic)rs4986763
ClinGenrs4986763
ebirs4986763
HLIrs4986763
Exacrs4986763
Gnomadrs4986763
Varsomers4986763
LitVarrs4986763
Maprs4986763
PheGenIrs4986763
Biobankrs4986763
1000 genomesrs4986763
hgdprs4986763
ensemblrs4986763
geneviewrs4986763
scholarrs4986763
googlers4986763
pharmgkbrs4986763
gwascentralrs4986763
openSNPrs4986763
23andMers4986763
SNPshotrs4986763
SNPdbers4986763
MSV3drs4986763
GWAS Ctlgrs4986763
GMAF0.332
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 19276285OA-icon.png] Associations between single nucleotide polymorphisms in double-stranded DNA repair pathway genes and familial breast cancer.


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


ClinVar
Risk rs4986763(C;C)
Alt rs4986763(C;C)
Reference Rs4986763(T;T)
Significance Probable-non-pathogenic
Disease Hereditary cancer-predisposing syndrome not specified Fanconi anemia Neoplasm of breast Fanconi anemia Neoplasm of ovary
Variation info
Gene BRIP1
CLNDBN Hereditary cancer-predisposing syndrome not specified Fanconi anemia Neoplasm of breast Fanconi anemia, complementation group J Neoplasm of ovary
Reversed 1
HGVS NC_000017.10:g.59760996A>G
CLNSRC
CLNACC RCV000162378.1, RCV000251677.1, RCV000283962.1, RCV000341269.1, RCV000410144.1, RCV000411217.1,