rs730880288

Orientation

minus

Stabilized

minus

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

Make rs730880288(-;-)

Reference

GRCh38.p2 38.2/144

Chromosome

17

Position

43063893

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs730880288
dbSNP (classic)	rs730880288
ClinGen	rs730880288
ebi	rs730880288
HLI	rs730880288
Exac	rs730880288
Gnomad	rs730880288
Varsome	rs730880288
LitVar	rs730880288
Map	rs730880288
PheGenI	rs730880288
Biobank	rs730880288
1000 genomes	rs730880288
hgdp	rs730880288
ensembl	rs730880288
geneview	rs730880288
scholar	rs730880288
google	rs730880288
pharmgkb	rs730880288
gwascentral	rs730880288
openSNP	rs730880288
23andMe	rs730880288
SNPshot	rs730880288
SNPdbe	rs730880288
MSV3d	rs730880288
GWAS Ctlg	rs730880288

Max Magnitude

6

BRCA1, c.5133delA (p.Lys1711Asnfs)

ClinVar
Risk	rs730880288(-;-)
Alt	rs730880288(-;-)
Reference	Rs730880288(A;A)
Significance	Pathogenic
Disease	Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41215910delT
CLNSRC
CLNACC	RCV000157653.2,