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rs606231193

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs606231193(-;-)
Make rs606231193(-;CT)
Make rs606231193(CT;CT)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position48902400
GenePQBP1
is asnp
is mentioned by
dbSNPrs606231193
ebirs606231193
HLIrs606231193
Exacrs606231193
Varsomers606231193
Maprs606231193
PheGenIrs606231193
hapmaprs606231193
1000 genomesrs606231193
hgdprs606231193
ensemblrs606231193
gopubmedrs606231193
geneviewrs606231193
scholarrs606231193
googlers606231193
pharmgkbrs606231193
gwascentralrs606231193
openSNPrs606231193
23andMers606231193
23andMe allrs606231193
SNP Nexus

SNPshotrs606231193
SNPdbers606231193
MSV3drs606231193
GWAS Ctlgrs606231193
Max Magnitude0
ClinVar
Risk rs606231193(CT;CT)
Alt rs606231193(CT;CT)
Reference rs606231193(;)
Significance Pathogenic
Disease Renpenning syndrome 1
Variation info
Gene PQBP1
CLNDBN Renpenning syndrome 1
Reversed 1
HGVS NC_000023.10:g.48759678_48759679dupAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000011726.5,