rs80358027

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;G)	6	BRCA1 variant considered pathogenic for breast cancer
(G;G)	0	Normal

Make rs80358027(A;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43082403

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80358027
dbSNP (classic)	rs80358027
ClinGen	rs80358027
ebi	rs80358027
HLI	rs80358027
Exac	rs80358027
Gnomad	rs80358027
Varsome	rs80358027
LitVar	rs80358027
Map	rs80358027
PheGenI	rs80358027
Biobank	rs80358027
1000 genomes	rs80358027
hgdp	rs80358027
ensembl	rs80358027
geneview	rs80358027
scholar	rs80358027
google	rs80358027
pharmgkb	rs80358027
gwascentral	rs80358027
openSNP	rs80358027
23andMe	rs80358027
SNPshot	rs80358027
SNPdbe	rs80358027
MSV3d	rs80358027
GWAS Ctlg	rs80358027

GMAF

0.0

Max Magnitude

6

ClinVar
Risk	rs80358027(A;A) rs80358027(C;C) rs80358027(T;T)
Alt	rs80358027(A;A) rs80358027(C;C) rs80358027(T;T)
Reference	Rs80358027(G;G)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided Hereditary breast and ovarian cancer syndrome
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided Hereditary breast and ovarian cancer syndrome
Reversed	1
HGVS	NC_000017.10:g.41234420C>A; NC_000017.10:g.41234420C>G; NC_000017.10:g.41234420C>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	RCV000048534.2, RCV000112325.1, RCV000222812.1, RCV000048533.2, RCV000112324.1, RCV000215639.1, RCV000031165.7, RCV000048532.6, RCV000131879.2, RCV000167804.2,