rs397508942

Merged into

rs80357715

Orientation

minus

Stabilized

minus

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

Make rs397508942(A;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093373

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs397508942
dbSNP (classic)	rs397508942
ClinGen	rs397508942
ebi	rs397508942
HLI	rs397508942
Exac	rs397508942
Gnomad	rs397508942
Varsome	rs397508942
LitVar	rs397508942
Map	rs397508942
PheGenI	rs397508942
Biobank	rs397508942
1000 genomes	rs397508942
hgdp	rs397508942
ensembl	rs397508942
geneview	rs397508942
scholar	rs397508942
google	rs397508942
pharmgkb	rs397508942
gwascentral	rs397508942
openSNP	rs397508942
23andMe	rs397508942
SNPshot	rs397508942
SNPdbe	rs397508942
MSV3d	rs397508942
GWAS Ctlg	rs397508942

Status

Merged into rs80357715

Max Magnitude

6

ClinVar
Risk	rs397508942(A;A)
Alt	rs397508942(A;A)
Reference	Rs397508942(;)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA1
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000017.10:g.41245391dupT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000047735.3, RCV000111778.3, RCV000210761.1,