rs2048718

plus

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

Make rs2048718(C;T)

Make rs2048718(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

61863458

Gene

BRIP1

is a	snp
is	mentioned by
dbSNP	rs2048718
dbSNP (classic)	rs2048718
ClinGen	rs2048718
ebi	rs2048718
HLI	rs2048718
Exac	rs2048718
Gnomad	rs2048718
Varsome	rs2048718
LitVar	rs2048718
Map	rs2048718
PheGenI	rs2048718
Biobank	rs2048718
1000 genomes	rs2048718
hgdp	rs2048718
ensembl	rs2048718
geneview	rs2048718
scholar	rs2048718
google	rs2048718
pharmgkb	rs2048718
gwascentral	rs2048718
openSNP	rs2048718
23andMe	rs2048718
SNPshot	rs2048718
SNPdbe	rs2048718
MSV3d	rs2048718
GWAS Ctlg	rs2048718

GMAF

0.494

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

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

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

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

ClinVar
Risk	rs2048718(T;T)
Alt	rs2048718(T;T)
Reference	Rs2048718(C;C)
Significance	Probable-non-pathogenic
Disease	Neoplasm of breast Fanconi anemia
Variation	info
Gene	BRIP1
CLNDBN	Neoplasm of breast Fanconi anemia
Reversed	0
HGVS	NC_000017.10:g.59940819C>T
CLNSRC
CLNACC	RCV000262472.1, RCV000317692.1,