rs397509283

Orientation

minus

Stabilized

minus

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

Make rs397509283(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43047679

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs397509283
dbSNP (classic)	rs397509283
ClinGen	rs397509283
ebi	rs397509283
HLI	rs397509283
Exac	rs397509283
Gnomad	rs397509283
Varsome	rs397509283
LitVar	rs397509283
Map	rs397509283
PheGenI	rs397509283
Biobank	rs397509283
1000 genomes	rs397509283
hgdp	rs397509283
ensembl	rs397509283
geneview	rs397509283
scholar	rs397509283
google	rs397509283
pharmgkb	rs397509283
gwascentral	rs397509283
openSNP	rs397509283
23andMe	rs397509283
SNPshot	rs397509283
SNPdbe	rs397509283
MSV3d	rs397509283
GWAS Ctlg	rs397509283

Max Magnitude

6

ClinVar
Risk	rs397509283(T;T)
Alt	rs397509283(T;T)
Reference	Rs397509283(C;C)
Significance	Pathogenic
Disease	Familial cancer of breast not provided Breast-ovarian cancer not specified
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast not provided Breast-ovarian cancer, familial 1 not specified
Reversed	1
HGVS	NC_000017.10:g.41199696G>A
CLNSRC	ClinVar
CLNACC	RCV000048992.2, RCV000235642.1, RCV000238731.2, RCV000239133.1,