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rs879255319

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs879255319(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position43094852
GeneBRCA1
is asnp
is mentioned by
dbSNPrs879255319
dbSNP (classic)rs879255319
ClinGenrs879255319
ebirs879255319
HLIrs879255319
Exacrs879255319
Gnomadrs879255319
Varsomers879255319
LitVarrs879255319
Maprs879255319
PheGenIrs879255319
Biobankrs879255319
1000 genomesrs879255319
hgdprs879255319
ensemblrs879255319
geneviewrs879255319
scholarrs879255319
googlers879255319
pharmgkbrs879255319
gwascentralrs879255319
openSNPrs879255319
23andMers879255319
SNPshotrs879255319
SNPdbers879255319
MSV3drs879255319
GWAS Ctlgrs879255319
Max Magnitude6
ClinVar
Risk rs879255319(T;T)
Alt rs879255319(T;T)
Reference Rs879255319(G;G)
Significance Pathogenic
Disease not specified
Variation info
Gene BRCA1
CLNDBN not specified
Reversed 1
HGVS NC_000017.10:g.41246869C>A
CLNSRC
CLNACC RCV000238591.1,