rs397508949

Orientation

minus

Stabilized

minus

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

Make rs397508949(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093334

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs397508949
dbSNP (classic)	rs397508949
ClinGen	rs397508949
ebi	rs397508949
HLI	rs397508949
Exac	rs397508949
Gnomad	rs397508949
Varsome	rs397508949
LitVar	rs397508949
Map	rs397508949
PheGenI	rs397508949
Biobank	rs397508949
1000 genomes	rs397508949
hgdp	rs397508949
ensembl	rs397508949
geneview	rs397508949
scholar	rs397508949
google	rs397508949
pharmgkb	rs397508949
gwascentral	rs397508949
openSNP	rs397508949
23andMe	rs397508949
SNPshot	rs397508949
SNPdbe	rs397508949
MSV3d	rs397508949
GWAS Ctlg	rs397508949

Max Magnitude

6

ClinVar
Risk	rs397508949(T;T)
Alt	rs397508949(T;T)
Reference	Rs397508949(G;G)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer not provided
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1 not provided
Reversed	1
HGVS	NC_000017.10:g.41245351C>A
CLNSRC	ClinVar
CLNACC	RCV000047753.2, RCV000077511.4, RCV000479672.1,