rs80357942

minus

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

Make rs80357942(A;A)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43092782

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357942
dbSNP (classic)	rs80357942
ClinGen	rs80357942
ebi	rs80357942
HLI	rs80357942
Exac	rs80357942
Gnomad	rs80357942
Varsome	rs80357942
LitVar	rs80357942
Map	rs80357942
PheGenI	rs80357942
Biobank	rs80357942
1000 genomes	rs80357942
hgdp	rs80357942
ensembl	rs80357942
geneview	rs80357942
scholar	rs80357942
google	rs80357942
pharmgkb	rs80357942
gwascentral	rs80357942
openSNP	rs80357942
23andMe	rs80357942
SNPshot	rs80357942
SNPdbe	rs80357942
MSV3d	rs80357942
GWAS Ctlg	rs80357942

Merged from

Rs397509009

Max Magnitude

6

rs80357942, also known as 2867insA, c.2748_2749insA and p.Asn916_Ile917?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357942(A;A)
Alt	rs80357942(A;A)
Reference	Rs80357942(-;-)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41244799dupT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000047957.2, RCV000111931.3,