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rs4986764

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs4986764(C;C)
Make rs4986764(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position61685986
GeneBRIP1
is asnp
is mentioned by
dbSNPrs4986764
dbSNP (classic)rs4986764
ClinGenrs4986764
ebirs4986764
HLIrs4986764
Exacrs4986764
Gnomadrs4986764
Varsomers4986764
LitVarrs4986764
Maprs4986764
PheGenIrs4986764
Biobankrs4986764
1000 genomesrs4986764
hgdprs4986764
ensemblrs4986764
geneviewrs4986764
scholarrs4986764
googlers4986764
pharmgkbrs4986764
gwascentralrs4986764
openSNPrs4986764
23andMers4986764
23andMe allrs4986764
SNPshotrs4986764
SNPdbers4986764
MSV3drs4986764
GWAS Ctlgrs4986764
GMAF0.3269
Max Magnitude0
? (C;C) (C;T) (T;T) 28



[PMID 15113441OA-icon.png] Kin-cohort estimates for familial breast cancer risk in relation to variants in DNA base excision repair, BRCA1 interacting and growth factor genes.

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

[PMID 19138047OA-icon.png] Thyroid nodules, polymorphic variants in DNA repair and RET-related genes, and interaction with ionizing radiation exposure from nuclear tests in Kazakhstan.

[PMID 19276285OA-icon.png] Associations between single nucleotide polymorphisms in double-stranded DNA repair pathway genes and familial breast cancer.



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


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


ClinVar
Risk rs4986764(C;C)
Alt rs4986764(C;C)
Reference Rs4986764(T;T)
Significance Probable-non-pathogenic
Disease not specified Hereditary cancer-predisposing syndrome Fanconi anemia Neoplasm of breast Neoplasm of ovary Fanconi anemia
Variation info
Gene BRIP1
CLNDBN not specified Hereditary cancer-predisposing syndrome Fanconi anemia Neoplasm of breast Neoplasm of ovary Fanconi anemia, complementation group J
Reversed 1
HGVS NC_000017.10:g.59763347A>G
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000120400.2, RCV000132148.3, RCV000286073.1, RCV000377937.1, RCV000410195.1, RCV000412161.1,