rs80358069

Orientation

minus

Stabilized

minus

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

Make rs80358069(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43057137

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80358069
dbSNP (classic)	rs80358069
ClinGen	rs80358069
ebi	rs80358069
HLI	rs80358069
Exac	rs80358069
Gnomad	rs80358069
Varsome	rs80358069
LitVar	rs80358069
Map	rs80358069
PheGenI	rs80358069
Biobank	rs80358069
1000 genomes	rs80358069
hgdp	rs80358069
ensembl	rs80358069
geneview	rs80358069
scholar	rs80358069
google	rs80358069
pharmgkb	rs80358069
gwascentral	rs80358069
openSNP	rs80358069
23andMe	rs80358069
SNPshot	rs80358069
SNPdbe	rs80358069
MSV3d	rs80358069
GWAS Ctlg	rs80358069

Max Magnitude

6

c.5194-2A>G

considered pathogenic for breast cancer in ClinVar

ClinVar
Risk	rs80358069(C;C) rs80358069(G;G)
Alt	rs80358069(C;C) rs80358069(G;G)
Reference	Rs80358069(A;A)
Significance	Pathogenic
Disease	Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Reversed	1
HGVS	NC_000017.10:g.41209154T>C; NC_000017.10:g.41209154T>G
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000031228.6, RCV000048853.2, RCV000131860.3, RCV000256055.1, RCV000048852.2,