rs1799954

plus

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

Make rs1799954(C;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32340455

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs1799954
dbSNP (classic)	rs1799954
ClinGen	rs1799954
ebi	rs1799954
HLI	rs1799954
Exac	rs1799954
Gnomad	rs1799954
Varsome	rs1799954
LitVar	rs1799954
Map	rs1799954
PheGenI	rs1799954
Biobank	rs1799954
1000 genomes	rs1799954
hgdp	rs1799954
ensembl	rs1799954
geneview	rs1799954
scholar	rs1799954
google	rs1799954
pharmgkb	rs1799954
gwascentral	rs1799954
openSNP	rs1799954
23andMe	rs1799954
SNPshot	rs1799954
SNPdbe	rs1799954
MSV3d	rs1799954
GWAS Ctlg	rs1799954

GMAF

0.001837

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).

ClinVar
Risk	Rs1799954(T;T)
Alt	Rs1799954(T;T)
Reference	Rs1799954(C;C)
Significance	Other
Disease	not provided Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer not specified Hereditary cancer-predisposing syndrome Familial cancer of breast
Variation	info
Gene	BRCA2
CLNDBN	not provided Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 not specified Hereditary cancer-predisposing syndrome Familial cancer of breast
Reversed	0
HGVS	NC_000013.10:g.32914592C>T
CLNSRC	University Hospital of North Norway
CLNACC	RCV000034452.4, RCV000044844.9, RCV000113532.6, RCV000120331.5, RCV000162509.1, RCV000461415.1,