rs397509131

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(-;G)	6	BRCA1 variant considered pathogenic for breast cancer

Make rs397509131(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43091481

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs397509131
dbSNP (classic)	rs397509131
ClinGen	rs397509131
ebi	rs397509131
HLI	rs397509131
Exac	rs397509131
Gnomad	rs397509131
Varsome	rs397509131
LitVar	rs397509131
Map	rs397509131
PheGenI	rs397509131
Biobank	rs397509131
1000 genomes	rs397509131
hgdp	rs397509131
ensembl	rs397509131
geneview	rs397509131
scholar	rs397509131
google	rs397509131
pharmgkb	rs397509131
gwascentral	rs397509131
openSNP	rs397509131
23andMe	rs397509131
SNPshot	rs397509131
SNPdbe	rs397509131
MSV3d	rs397509131
GWAS Ctlg	rs397509131

Max Magnitude

6

aka c.4049dupG (p.Glu1352Glyfs)

ClinVar
Risk	rs397509131(G;G)
Alt	rs397509131(G;G)
Reference	Rs397509131(-;-)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41243499dupC
CLNSRC	ClinVar
CLNACC	RCV000048423.2, RCV000241382.1,