rs80358189

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;G)	6	BRCA1 variant reported to be pathogenic for breast cancer
(C;G)	6	BRCA1 variant reported to be pathogenic for breast cancer
(G;G)	0	common in clinvar
(G;T)	6	BRCA1 variant reported to be pathogenic for breast cancer

Make rs80358189(A;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43074522

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80358189
dbSNP (classic)	rs80358189
ClinGen	rs80358189
ebi	rs80358189
HLI	rs80358189
Exac	rs80358189
Gnomad	rs80358189
Varsome	rs80358189
LitVar	rs80358189
Map	rs80358189
PheGenI	rs80358189
Biobank	rs80358189
1000 genomes	rs80358189
hgdp	rs80358189
ensembl	rs80358189
geneview	rs80358189
scholar	rs80358189
google	rs80358189
pharmgkb	rs80358189
gwascentral	rs80358189
openSNP	rs80358189
23andMe	rs80358189
SNPshot	rs80358189
SNPdbe	rs80358189
MSV3d	rs80358189
GWAS Ctlg	rs80358189

Max Magnitude

6

aka c.4485-1G>T and also c.4485G>A as well as c.4485G>C; all are considered pathogenic for breast cancer in ClinVar

ClinVar
Risk	rs80358189(A;A) rs80358189(C;C) rs80358189(T;T)
Alt	rs80358189(A;A) rs80358189(C;C) rs80358189(T;T)
Reference	Rs80358189(G;G)
Significance	Pathogenic
Disease	not provided Breast-ovarian cancer Familial cancer of breast
Variation	info
Gene	BRCA1
CLNDBN	not provided Breast-ovarian cancer, familial 1 Familial cancer of breast
Reversed	1
HGVS	NC_000017.10:g.41226539C>A; NC_000017.10:g.41226539C>G; NC_000017.10:g.41226539C>T
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000236333.1, RCV000258158.1, RCV000258379.1, RCV000048577.2, RCV000112343.2, RCV000235386.1,