rs80357549

minus

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

Make rs80357549(A;A)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43092840

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357549
dbSNP (classic)	rs80357549
ClinGen	rs80357549
ebi	rs80357549
HLI	rs80357549
Exac	rs80357549
Gnomad	rs80357549
Varsome	rs80357549
LitVar	rs80357549
Map	rs80357549
PheGenI	rs80357549
Biobank	rs80357549
1000 genomes	rs80357549
hgdp	rs80357549
ensembl	rs80357549
geneview	rs80357549
scholar	rs80357549
google	rs80357549
pharmgkb	rs80357549
gwascentral	rs80357549
openSNP	rs80357549
23andMe	rs80357549
SNPshot	rs80357549
SNPdbe	rs80357549
MSV3d	rs80357549
GWAS Ctlg	rs80357549

Merged from

Rs606231390

Max Magnitude

6

rs80357549, also known as 2809insA, c.2690_2691insA and p.Pro897?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

Equivalent to rs397509000

ClinVar
Risk	rs80357549(A;A)
Alt	rs80357549(A;A)
Reference	Rs80357549(-;-)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer not provided
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1 not provided
Reversed	1
HGVS	NC_000017.10:g.41244854dupT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000047935.2, RCV000111919.3, RCV000484692.1,