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rs879255495

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs879255495(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position43095888
GeneBRCA1
is asnp
is mentioned by
dbSNPrs879255495
dbSNP (classic)rs879255495
ClinGenrs879255495
ebirs879255495
HLIrs879255495
Exacrs879255495
Gnomadrs879255495
Varsomers879255495
LitVarrs879255495
Maprs879255495
PheGenIrs879255495
Biobankrs879255495
1000 genomesrs879255495
hgdprs879255495
ensemblrs879255495
geneviewrs879255495
scholarrs879255495
googlers879255495
pharmgkbrs879255495
gwascentralrs879255495
openSNPrs879255495
23andMers879255495
SNPshotrs879255495
SNPdbers879255495
MSV3drs879255495
GWAS Ctlgrs879255495
Max Magnitude6
ClinVar
Risk rs879255495(T;T)
Alt rs879255495(T;T)
Reference Rs879255495(C;C)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41247905G>A
CLNSRC
CLNACC RCV000238734.1,