rs397508889

Orientation

minus

Stabilized

minus

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

Make rs397508889(A;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093929

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs397508889
dbSNP (classic)	rs397508889
ClinGen	rs397508889
ebi	rs397508889
HLI	rs397508889
Exac	rs397508889
Gnomad	rs397508889
Varsome	rs397508889
LitVar	rs397508889
Map	rs397508889
PheGenI	rs397508889
Biobank	rs397508889
1000 genomes	rs397508889
hgdp	rs397508889
ensembl	rs397508889
geneview	rs397508889
scholar	rs397508889
google	rs397508889
pharmgkb	rs397508889
gwascentral	rs397508889
openSNP	rs397508889
23andMe	rs397508889
SNPshot	rs397508889
SNPdbe	rs397508889
MSV3d	rs397508889
GWAS Ctlg	rs397508889

Max Magnitude

6

aka c.787+814dup

ClinVar
Risk	rs397508889(A;A)
Alt	rs397508889(A;A)
Reference	Rs397508889(-;-)
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.41245947dupT
CLNSRC	ClinVar
CLNACC	RCV000047537.2, RCV000256954.2,