rs80357721

Orientation

minus

Stabilized

minus

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

Make rs80357721(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43045749

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357721
dbSNP (classic)	rs80357721
ClinGen	rs80357721
ebi	rs80357721
HLI	rs80357721
Exac	rs80357721
Gnomad	rs80357721
Varsome	rs80357721
LitVar	rs80357721
Map	rs80357721
PheGenI	rs80357721
Biobank	rs80357721
1000 genomes	rs80357721
hgdp	rs80357721
ensembl	rs80357721
geneview	rs80357721
scholar	rs80357721
google	rs80357721
pharmgkb	rs80357721
gwascentral	rs80357721
openSNP	rs80357721
23andMe	rs80357721
SNPshot	rs80357721
SNPdbe	rs80357721
MSV3d	rs80357721
GWAS Ctlg	rs80357721

Max Magnitude

6

BRCA1, c.5521delA (p.Ser1841Valfs)

ClinVar
Risk	rs80357721(-;-)
Alt	rs80357721(-;-)
Reference	Rs80357721(A;A)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41197766delT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000049034.4, RCV000112693.3,