rs397508938

Orientation

minus

Stabilized

minus

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

Make rs397508938(A;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43106456

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs397508938
dbSNP (classic)	rs397508938
ClinGen	rs397508938
ebi	rs397508938
HLI	rs397508938
Exac	rs397508938
Gnomad	rs397508938
Varsome	rs397508938
LitVar	rs397508938
Map	rs397508938
PheGenI	rs397508938
Biobank	rs397508938
1000 genomes	rs397508938
hgdp	rs397508938
ensembl	rs397508938
geneview	rs397508938
scholar	rs397508938
google	rs397508938
pharmgkb	rs397508938
gwascentral	rs397508938
openSNP	rs397508938
23andMe	rs397508938
SNPshot	rs397508938
SNPdbe	rs397508938
MSV3d	rs397508938
GWAS Ctlg	rs397508938

Max Magnitude

6

aka c.70delA and also c.211dupA; both are considered pathogenic for breast cancer in ClinVar

ClinVar
Risk	rs397508938(A;A)
Alt	rs397508938(A;A)
Reference	Rs397508938(-;-)
Significance	Untested
Disease	Familial cancer of breast
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast
Reversed	1
HGVS	NC_000017.10:g.41258474dupT
CLNSRC	ClinVar
CLNACC	RCV000047714.2,