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rs398122667

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;T) 6 BRCA1 variant considered pathogenic for breast cancer
(T;T) 0 common in clinvar


Make rs398122667(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092783
GeneBRCA1
is asnp
is mentioned by
dbSNPrs398122667
dbSNP (classic)rs398122667
ClinGenrs398122667
ebirs398122667
HLIrs398122667
Exacrs398122667
Gnomadrs398122667
Varsomers398122667
LitVarrs398122667
Maprs398122667
PheGenIrs398122667
Biobankrs398122667
1000 genomesrs398122667
hgdprs398122667
ensemblrs398122667
geneviewrs398122667
scholarrs398122667
googlers398122667
pharmgkbrs398122667
gwascentralrs398122667
openSNPrs398122667
23andMers398122667
SNPshotrs398122667
SNPdbers398122667
MSV3drs398122667
GWAS Ctlgrs398122667
Max Magnitude6
ClinVar
Risk rs398122667(-;-)
Alt rs398122667(-;-)
Reference Rs398122667(T;T)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41244800delA
CLNSRC ClinVar
CLNACC RCV000077116.3,