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rs398123538

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CA;CA) 0 common in clinvar
Make rs398123538(-;-)
Make rs398123538(-;CA)
ReferenceGRCh38 38.1/141
Chromosome3
Position121772605
GeneIQCB1
is asnp
is mentioned by
dbSNPrs398123538
dbSNP (classic)rs398123538
ClinGenrs398123538
ebirs398123538
HLIrs398123538
Exacrs398123538
Gnomadrs398123538
Varsomers398123538
LitVarrs398123538
Maprs398123538
PheGenIrs398123538
Biobankrs398123538
1000 genomesrs398123538
hgdprs398123538
ensemblrs398123538
geneviewrs398123538
scholarrs398123538
googlers398123538
pharmgkbrs398123538
gwascentralrs398123538
openSNPrs398123538
23andMers398123538
SNPshotrs398123538
SNPdbers398123538
MSV3drs398123538
GWAS Ctlgrs398123538
Max Magnitude0
ClinVar
Risk rs398123538(-;-)
Alt rs398123538(-;-)
Reference Rs398123538(CA;CA)
Significance Pathogenic
Disease not provided Senior-Loken syndrome 5
Variation info
Gene IQCB1
CLNDBN not provided Senior-Loken syndrome 5
Reversed 1
HGVS NC_000003.11:g.121491452_121491453delTG
CLNSRC HGMD
CLNACC RCV000079367.3, RCV000174695.1,