rs4987117

plus

Geno	Mag	Summary
(C;C)	0	common in complete genomics
(T;T)	2

Make rs4987117(C;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32340099

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs4987117
dbSNP (classic)	rs4987117
ClinGen	rs4987117
ebi	rs4987117
HLI	rs4987117
Exac	rs4987117
Gnomad	rs4987117
Varsome	rs4987117
LitVar	rs4987117
Map	rs4987117
PheGenI	rs4987117
Biobank	rs4987117
1000 genomes	rs4987117
hgdp	rs4987117
ensembl	rs4987117
geneview	rs4987117
scholar	rs4987117
google	rs4987117
pharmgkb	rs4987117
gwascentral	rs4987117
openSNP	rs4987117
23andMe	rs4987117
SNPshot	rs4987117
SNPdbe	rs4987117
MSV3d	rs4987117
GWAS Ctlg	rs4987117

GMAF

0.01148

Max Magnitude

2

?

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

28

This SNP, a variant in the BRCA2 gene, is 1 of 25 SNPs reported to represent independently minor, but cumulatively significant, increased risk for breast cancer. [PMID 17341484]

For details of all 25 SNPs in this group, along with the two methods used to calculate overall risk estimates for breast cancer, refer to the SNPedia breast cancer entry.

For this particular SNP, the risk (minor) allele is (T).

[PMID 20010525] Association between polymorphisms of the BRCA2 gene and clinical parameters in breast cancer.

ClinVar
Risk	Rs4987117(T;T)
Alt	Rs4987117(T;T)
Reference	Rs4987117(C;C)
Significance	Other
Disease	not provided Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome Neoplasm of breast Familial cancer of breast
Variation	info
Gene	BRCA2
CLNDBN	not provided Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome Neoplasm of breast Familial cancer of breast
Reversed	0
HGVS	NC_000013.10:g.32914236C>T
CLNSRC	HGMD
CLNACC	RCV000034450.3, RCV000113476.6, RCV000119140.6, RCV000120330.8, RCV000128885.4, RCV000412748.1, RCV000467184.1,