rs398122709

Orientation

minus

Stabilized

minus

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

Make rs398122709(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43094595

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs398122709
dbSNP (classic)	rs398122709
ClinGen	rs398122709
ebi	rs398122709
HLI	rs398122709
Exac	rs398122709
Gnomad	rs398122709
Varsome	rs398122709
LitVar	rs398122709
Map	rs398122709
PheGenI	rs398122709
Biobank	rs398122709
1000 genomes	rs398122709
hgdp	rs398122709
ensembl	rs398122709
geneview	rs398122709
scholar	rs398122709
google	rs398122709
pharmgkb	rs398122709
gwascentral	rs398122709
openSNP	rs398122709
23andMe	rs398122709
SNPshot	rs398122709
SNPdbe	rs398122709
MSV3d	rs398122709
GWAS Ctlg	rs398122709

Max Magnitude

6

BRCA1, c.936delC (p.Leu313Terfs)

ClinVar
Risk	rs398122709(-;-)
Alt	rs398122709(-;-)
Reference	Rs398122709(C;C)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000017.10:g.41246612delG
CLNSRC	ClinVar
CLNACC	RCV000077186.3, RCV000167151.1,