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rs878853294

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs878853294(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position43074430
GeneBRCA1
is asnp
is mentioned by
dbSNPrs878853294
dbSNP (classic)rs878853294
ClinGenrs878853294
ebirs878853294
HLIrs878853294
Exacrs878853294
Gnomadrs878853294
Varsomers878853294
LitVarrs878853294
Maprs878853294
PheGenIrs878853294
Biobankrs878853294
1000 genomesrs878853294
hgdprs878853294
ensemblrs878853294
geneviewrs878853294
scholarrs878853294
googlers878853294
pharmgkbrs878853294
gwascentralrs878853294
openSNPrs878853294
23andMers878853294
SNPshotrs878853294
SNPdbers878853294
MSV3drs878853294
GWAS Ctlgrs878853294
Max Magnitude6
ClinVar
Risk rs878853294(T;T)
Alt rs878853294(T;T)
Reference Rs878853294(G;G)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41226447C>A
CLNSRC
CLNACC RCV000225380.2,