rs397509247

Orientation

minus

Stabilized

minus

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

Make rs397509247(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43057063

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs397509247
dbSNP (classic)	rs397509247
ClinGen	rs397509247
ebi	rs397509247
HLI	rs397509247
Exac	rs397509247
Gnomad	rs397509247
Varsome	rs397509247
LitVar	rs397509247
Map	rs397509247
PheGenI	rs397509247
Biobank	rs397509247
1000 genomes	rs397509247
hgdp	rs397509247
ensembl	rs397509247
geneview	rs397509247
scholar	rs397509247
google	rs397509247
pharmgkb	rs397509247
gwascentral	rs397509247
openSNP	rs397509247
23andMe	rs397509247
SNPshot	rs397509247
SNPdbe	rs397509247
MSV3d	rs397509247
GWAS Ctlg	rs397509247

Max Magnitude

6

ClinVar
Risk	rs397509247(T;T)
Alt	rs397509247(T;T)
Reference	Rs397509247(C;C)
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.41209080G>A
CLNSRC	ClinVar
CLNACC	RCV000048892.2, RCV000257437.2,