rs2227945

minus

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

Make rs2227945(A;G)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43092113

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs2227945
dbSNP (classic)	rs2227945
ClinGen	rs2227945
ebi	rs2227945
HLI	rs2227945
Exac	rs2227945
Gnomad	rs2227945
Varsome	rs2227945
LitVar	rs2227945
Map	rs2227945
PheGenI	rs2227945
Biobank	rs2227945
1000 genomes	rs2227945
hgdp	rs2227945
ensembl	rs2227945
geneview	rs2227945
scholar	rs2227945
google	rs2227945
pharmgkb	rs2227945
gwascentral	rs2227945
openSNP	rs2227945
23andMe	rs2227945
SNPshot	rs2227945
SNPdbe	rs2227945
MSV3d	rs2227945
GWAS Ctlg	rs2227945

GMAF

0.01102

Max Magnitude

2

?

(A;A) (A;G) (G;G)

28

This SNP, a variant in the BRCA1 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 (G).

ClinVar
Risk	Rs2227945(G;G)
Alt	Rs2227945(G;G)
Reference	Rs2227945(A;A)
Significance	Other
Disease	not provided Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer not specified Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA1
CLNDBN	not provided Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 not specified Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000017.10:g.41244130T>C
CLNSRC	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation UniProtKB (protein)
CLNACC	RCV000034741.3, RCV000048187.9, RCV000112092.5, RCV000120277.7, RCV000162594.1,