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rs878853286

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;insCAACAT) 6 BRCA1 variant considered pathogenic for breast cancer
(AGG;AGG) 0 common in clinvar
(AGG;CAACAT) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs878853286(CAACAT;CAACAT)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position43051062
GeneBRCA1
is asnp
is mentioned by
dbSNPrs878853286
dbSNP (classic)rs878853286
ClinGenrs878853286
ebirs878853286
HLIrs878853286
Exacrs878853286
Gnomadrs878853286
Varsomers878853286
LitVarrs878853286
Maprs878853286
PheGenIrs878853286
Biobankrs878853286
1000 genomesrs878853286
hgdprs878853286
ensemblrs878853286
geneviewrs878853286
scholarrs878853286
googlers878853286
pharmgkbrs878853286
gwascentralrs878853286
openSNPrs878853286
23andMers878853286
SNPshotrs878853286
SNPdbers878853286
MSV3drs878853286
GWAS Ctlgrs878853286
Max Magnitude6
ClinVar
Risk rs878853286(CAACAT;CAACAT)
Alt rs878853286(CAACAT;CAACAT)
Reference Rs878853286(AGG;AGG)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41203079_41203081delCCTinsATGTTG
CLNSRC
CLNACC RCV000225592.1,