rs80357222

Orientation

minus

Stabilized

minus

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

Make rs80357222(A;T)

Make rs80357222(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43063883

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357222
dbSNP (classic)	rs80357222
ClinGen	rs80357222
ebi	rs80357222
HLI	rs80357222
Exac	rs80357222
Gnomad	rs80357222
Varsome	rs80357222
LitVar	rs80357222
Map	rs80357222
PheGenI	rs80357222
Biobank	rs80357222
1000 genomes	rs80357222
hgdp	rs80357222
ensembl	rs80357222
geneview	rs80357222
scholar	rs80357222
google	rs80357222
pharmgkb	rs80357222
gwascentral	rs80357222
openSNP	rs80357222
23andMe	rs80357222
SNPshot	rs80357222
SNPdbe	rs80357222
MSV3d	rs80357222
GWAS Ctlg	rs80357222

Max Magnitude

6

ClinVar
Risk	rs80357222(C;C) rs80357222(T;T)
Alt	rs80357222(C;C) rs80357222(T;T)
Reference	Rs80357222(A;A)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome not specified
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not specified
Reversed	1
HGVS	NC_000017.10:g.41215900T>A; NC_000017.10:g.41215900T>G
CLNSRC	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation UniProtKB (protein)
CLNACC	RCV000048811.2, RCV000112506.1, RCV000129744.2, RCV000236177.1, RCV000048810.2, RCV000112505.2,