rs398122692

Orientation

minus

Stabilized

minus

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

Make rs398122692(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43063340

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs398122692
dbSNP (classic)	rs398122692
ClinGen	rs398122692
ebi	rs398122692
HLI	rs398122692
Exac	rs398122692
Gnomad	rs398122692
Varsome	rs398122692
LitVar	rs398122692
Map	rs398122692
PheGenI	rs398122692
Biobank	rs398122692
1000 genomes	rs398122692
hgdp	rs398122692
ensembl	rs398122692
geneview	rs398122692
scholar	rs398122692
google	rs398122692
pharmgkb	rs398122692
gwascentral	rs398122692
openSNP	rs398122692
23andMe	rs398122692
SNPshot	rs398122692
SNPdbe	rs398122692
MSV3d	rs398122692
GWAS Ctlg	rs398122692

Max Magnitude

6

BRCA1, c.5186delT (p.Leu1729Argfs)

ClinVar
Risk	rs398122692(-;-)
Alt	rs398122692(-;-)
Reference	Rs398122692(T;T)
Significance	Pathogenic
Disease	Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41215357delA
CLNSRC	ClinVar
CLNACC	RCV000077157.3,