rs80358019

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;C)	5	BRCA1 variant considered pathogenic for breast cancer
(A;G)	5	BRCA1 variant considered pathogenic for breast cancer

Make rs80358019(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43091034

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80358019
dbSNP (classic)	rs80358019
ClinGen	rs80358019
ebi	rs80358019
HLI	rs80358019
Exac	rs80358019
Gnomad	rs80358019
Varsome	rs80358019
LitVar	rs80358019
Map	rs80358019
PheGenI	rs80358019
Biobank	rs80358019
1000 genomes	rs80358019
hgdp	rs80358019
ensembl	rs80358019
geneview	rs80358019
scholar	rs80358019
google	rs80358019
pharmgkb	rs80358019
gwascentral	rs80358019
openSNP	rs80358019
23andMe	rs80358019
SNPshot	rs80358019
SNPdbe	rs80358019
MSV3d	rs80358019
GWAS Ctlg	rs80358019

Max Magnitude

5

c.4097-2A>C and also c.4097-2A>G

considered pathogenic for breast cancer in ClinVar

ClinVar
Risk	rs80358019(C;C) rs80358019(G;G)
Alt	rs80358019(C;C) rs80358019(G;G)
Reference	Rs80358019(A;A)
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.41243051T>C; NC_000017.10:g.41243051T>G
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048444.2, RCV000112256.1, RCV000159986.1,