rs80357784

minus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(-;A)	6	Likely miscall in Ancestry v2c data; otherwise, BRCA1 variant considered pathogenic for breast cancer

Make rs80357784(A;A)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43093830

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357784
dbSNP (classic)	rs80357784
ClinGen	rs80357784
ebi	rs80357784
HLI	rs80357784
Exac	rs80357784
Gnomad	rs80357784
Varsome	rs80357784
LitVar	rs80357784
Map	rs80357784
PheGenI	rs80357784
Biobank	rs80357784
1000 genomes	rs80357784
hgdp	rs80357784
ensembl	rs80357784
geneview	rs80357784
scholar	rs80357784
google	rs80357784
pharmgkb	rs80357784
gwascentral	rs80357784
openSNP	rs80357784
23andMe	rs80357784
SNPshot	rs80357784
SNPdbe	rs80357784
MSV3d	rs80357784
GWAS Ctlg	rs80357784

Max Magnitude

6

rs80357784, also known as c.1700dup, c.787+913del, 1819insA, c.1700_1701insA and p.Asn567?fs; all are variants in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357784(A;A)
Alt	rs80357784(A;A)
Reference	Rs80357784(-;-)
Significance	Pathogenic
Disease	Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41245848dupT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000111666.2,