rs80358053

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	Normal
(G;T)	6	BRCA1 variant considered pathogenic for breast cancer

Make rs80358053(A;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43067607

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80358053
dbSNP (classic)	rs80358053
ClinGen	rs80358053
ebi	rs80358053
HLI	rs80358053
Exac	rs80358053
Gnomad	rs80358053
Varsome	rs80358053
LitVar	rs80358053
Map	rs80358053
PheGenI	rs80358053
Biobank	rs80358053
1000 genomes	rs80358053
hgdp	rs80358053
ensembl	rs80358053
geneview	rs80358053
scholar	rs80358053
google	rs80358053
pharmgkb	rs80358053
gwascentral	rs80358053
openSNP	rs80358053
23andMe	rs80358053
SNPshot	rs80358053
SNPdbe	rs80358053
MSV3d	rs80358053
GWAS Ctlg	rs80358053

Max Magnitude

6

ClinVar
Risk	rs80358053(A;A) rs80358053(C;C) rs80358053(T;T)
Alt	rs80358053(A;A) rs80358053(C;C) rs80358053(T;T)
Reference	Rs80358053(G;G)
Significance	Other
Disease	Breast-ovarian cancer Familial cancer of breast not provided Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Familial cancer of breast not provided Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000017.10:g.41219624C>A; NC_000017.10:g.41219624C>G; NC_000017.10:g.41219624C>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	RCV000031211.5, RCV000048765.2, RCV000482341.1, RCV000258181.1, RCV000031210.6, RCV000048764.3, RCV000131833.2, RCV000481404.1,