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rs398122654

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;AT) 6 BRCA1 variant considered pathogenic for breast cancer
(-;GA) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs398122654(GA;GA)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093284
GeneBRCA1
is asnp
is mentioned by
dbSNPrs398122654
dbSNP (classic)rs398122654
ClinGenrs398122654
ebirs398122654
HLIrs398122654
Exacrs398122654
Gnomadrs398122654
Varsomers398122654
LitVarrs398122654
Maprs398122654
PheGenIrs398122654
Biobankrs398122654
1000 genomesrs398122654
hgdprs398122654
ensemblrs398122654
geneviewrs398122654
scholarrs398122654
googlers398122654
pharmgkbrs398122654
gwascentralrs398122654
openSNPrs398122654
23andMers398122654
SNPshotrs398122654
SNPdbers398122654
MSV3drs398122654
GWAS Ctlgrs398122654
Max Magnitude6
ClinVar
Risk rs398122654(GA;GA)
Alt rs398122654(GA;GA)
Reference Rs398122654(-;-)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41245301_41245302insTC
CLNSRC ClinVar
CLNACC RCV000077097.2,