rs80357212

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;G)	3	BRCA1 variant of unclear significance
(G;G)	0	common in clinvar

Make rs80357212(A;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43047643

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357212
dbSNP (classic)	rs80357212
ClinGen	rs80357212
ebi	rs80357212
HLI	rs80357212
Exac	rs80357212
Gnomad	rs80357212
Varsome	rs80357212
LitVar	rs80357212
Map	rs80357212
PheGenI	rs80357212
Biobank	rs80357212
1000 genomes	rs80357212
hgdp	rs80357212
ensembl	rs80357212
geneview	rs80357212
scholar	rs80357212
google	rs80357212
pharmgkb	rs80357212
gwascentral	rs80357212
openSNP	rs80357212
23andMe	rs80357212
SNPshot	rs80357212
SNPdbe	rs80357212
MSV3d	rs80357212
GWAS Ctlg	rs80357212

Max Magnitude

3

c.5467G>A (p.Ala1823Thr)

clinical significance indicated in ClinVar as unknown

ClinVar
Risk	rs80357212(A;A)
Alt	rs80357212(A;A)
Reference	Rs80357212(G;G)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41199660C>T
CLNSRC	ClinVar
CLNACC	RCV000049006.2, RCV000112662.1,