rs4988345

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs4988345(C;T)

Make rs4988345(T;T)

Reference

GRCh38 38.1/142

Chromosome

17

Position

61847211

Gene

BRIP1

is a	snp
is	mentioned by
dbSNP	rs4988345
dbSNP (classic)	rs4988345
ClinGen	rs4988345
ebi	rs4988345
HLI	rs4988345
Exac	rs4988345
Gnomad	rs4988345
Varsome	rs4988345
LitVar	rs4988345
Map	rs4988345
PheGenI	rs4988345
Biobank	rs4988345
1000 genomes	rs4988345
hgdp	rs4988345
ensembl	rs4988345
geneview	rs4988345
scholar	rs4988345
google	rs4988345
pharmgkb	rs4988345
gwascentral	rs4988345
openSNP	rs4988345
23andMe	rs4988345
SNPshot	rs4988345
SNPdbe	rs4988345
MSV3d	rs4988345
GWAS Ctlg	rs4988345

GMAF

0.003214

Max Magnitude

0

?

(C;C) (C;T) (T;T)

28

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

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

[PMID 19127258 ] 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 Fanconi anemia Hereditary cancer-predisposing syndrome Neoplasm of ovary
Variation	info
Gene	BRIP1
CLNDBN	not specified Familial cancer of breast Fanconi anemia, complementation group J Hereditary cancer-predisposing syndrome Neoplasm of ovary
Reversed	1
HGVS	NC_000017.10:g.59924572G>A
CLNSRC	Ambry Genetics ClinVar GeneDx
CLNACC	RCV000120405.2, RCV000123360.5, RCV000129172.4, RCV000410168.1, RCV000411236.1,