rs142074233

Orientation

plus

Stabilized

plus

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

Make rs142074233(C;C)

Make rs142074233(C;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093931

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs142074233
dbSNP (classic)	rs142074233
ClinGen	rs142074233
ebi	rs142074233
HLI	rs142074233
Exac	rs142074233
Gnomad	rs142074233
Varsome	rs142074233
LitVar	rs142074233
Map	rs142074233
PheGenI	rs142074233
Biobank	rs142074233
1000 genomes	rs142074233
hgdp	rs142074233
ensembl	rs142074233
geneview	rs142074233
scholar	rs142074233
google	rs142074233
pharmgkb	rs142074233
gwascentral	rs142074233
openSNP	rs142074233
23andMe	rs142074233
SNPshot	rs142074233
SNPdbe	rs142074233
MSV3d	rs142074233
GWAS Ctlg	rs142074233

Max Magnitude

6

c.1600C>T (p.Gln534Ter)

ClinVar
Risk	rs142074233(A;A) rs142074233(C;C)
Alt	rs142074233(A;A) rs142074233(C;C)
Reference	Rs142074233(G;G)
Significance	Pathogenic
Disease	Familial cancer of breast not provided Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast not provided Breast-ovarian cancer, familial 1
Reversed	0
HGVS	NC_000017.10:g.41245948G>A
CLNSRC	ClinVar
CLNACC	RCV000047535.2, RCV000236467.1, RCV000238846.2,