rs80357790

minus

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

Make rs80357790(A;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43082460

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357790
dbSNP (classic)	rs80357790
ClinGen	rs80357790
ebi	rs80357790
HLI	rs80357790
Exac	rs80357790
Gnomad	rs80357790
Varsome	rs80357790
LitVar	rs80357790
Map	rs80357790
PheGenI	rs80357790
Biobank	rs80357790
1000 genomes	rs80357790
hgdp	rs80357790
ensembl	rs80357790
geneview	rs80357790
scholar	rs80357790
google	rs80357790
pharmgkb	rs80357790
gwascentral	rs80357790
openSNP	rs80357790
23andMe	rs80357790
SNPshot	rs80357790
SNPdbe	rs80357790
MSV3d	rs80357790
GWAS Ctlg	rs80357790

Max Magnitude

6

rs80357790, also known as 4419insA, c.4300_4301insA and p.Ser1434?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357790(A;A)
Alt	rs80357790(A;A)
Reference	Rs80357790(-;-)
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.41234478dupT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048517.2, RCV000112312.3,