rs80358044

Orientation

minus

Stabilized

minus

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

Make rs80358044(A;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43074330

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80358044
dbSNP (classic)	rs80358044
ClinGen	rs80358044
ebi	rs80358044
HLI	rs80358044
Exac	rs80358044
Gnomad	rs80358044
Varsome	rs80358044
LitVar	rs80358044
Map	rs80358044
PheGenI	rs80358044
Biobank	rs80358044
1000 genomes	rs80358044
hgdp	rs80358044
ensembl	rs80358044
geneview	rs80358044
scholar	rs80358044
google	rs80358044
pharmgkb	rs80358044
gwascentral	rs80358044
openSNP	rs80358044
23andMe	rs80358044
SNPshot	rs80358044
SNPdbe	rs80358044
MSV3d	rs80358044
GWAS Ctlg	rs80358044

Max Magnitude

6

ClinVar
Risk	rs80358044(A;A) rs80358044(C;C) rs80358044(T;T)
Alt	rs80358044(A;A) rs80358044(C;C) rs80358044(T;T)
Reference	Rs80358044(G;G)
Significance	Pathogenic
Disease	Hereditary cancer-predisposing syndrome Breast-ovarian cancer not provided Hereditary breast and ovarian cancer syndrome Neoplasm of breast
Variation	info
Gene	BRCA1
CLNDBN	Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 1 not provided Hereditary breast and ovarian cancer syndrome Neoplasm of breast
Reversed	1
HGVS	NC_000017.10:g.41226347C>A; NC_000017.10:g.41226347C>G; NC_000017.10:g.41226347C>T
CLNSRC	Breast Cancer Information Core (BRCA1) Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation
CLNACC	RCV000164823.1, RCV000258472.1, RCV000048623.5, RCV000077582.4, RCV000131822.3, RCV000225764.1, RCV000414441.1,