rs397509122

Orientation

minus

Stabilized

minus

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

Make rs397509122(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43091564

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs397509122
dbSNP (classic)	rs397509122
ClinGen	rs397509122
ebi	rs397509122
HLI	rs397509122
Exac	rs397509122
Gnomad	rs397509122
Varsome	rs397509122
LitVar	rs397509122
Map	rs397509122
PheGenI	rs397509122
Biobank	rs397509122
1000 genomes	rs397509122
hgdp	rs397509122
ensembl	rs397509122
geneview	rs397509122
scholar	rs397509122
google	rs397509122
pharmgkb	rs397509122
gwascentral	rs397509122
openSNP	rs397509122
23andMe	rs397509122
SNPshot	rs397509122
SNPdbe	rs397509122
MSV3d	rs397509122
GWAS Ctlg	rs397509122

Max Magnitude

6

BRCA1, c.3967delC (p.Gln1323Lysfs)

ClinVar
Risk	rs397509122(-;-)
Alt	rs397509122(-;-)
Reference	Rs397509122(C;C)
Significance	Pathogenic
Disease	Familial cancer of breast Hereditary cancer-predisposing syndrome Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41243581delG
CLNSRC	ClinVar
CLNACC	RCV000048394.2, RCV000220986.1, RCV000257504.2,