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rs142074233

From SNPedia

Orientationplus
Stabilizedplus
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)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093931
GeneBRCA1
is asnp
is mentioned by
dbSNPrs142074233
dbSNP (classic)rs142074233
ClinGenrs142074233
ebirs142074233
HLIrs142074233
Exacrs142074233
Gnomadrs142074233
Varsomers142074233
LitVarrs142074233
Maprs142074233
PheGenIrs142074233
Biobankrs142074233
1000 genomesrs142074233
hgdprs142074233
ensemblrs142074233
geneviewrs142074233
scholarrs142074233
googlers142074233
pharmgkbrs142074233
gwascentralrs142074233
openSNPrs142074233
23andMers142074233
SNPshotrs142074233
SNPdbers142074233
MSV3drs142074233
GWAS Ctlgrs142074233
Max Magnitude6

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,