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rs606231195

From SNPedia

Orientationminus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs606231195(-;-)
Make rs606231195(-;CT)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position48902401
GenePQBP1
is asnp
is mentioned by
dbSNPrs606231195
ebirs606231195
HLIrs606231195
Exacrs606231195
Varsomers606231195
Maprs606231195
PheGenIrs606231195
hapmaprs606231195
1000 genomesrs606231195
hgdprs606231195
ensemblrs606231195
gopubmedrs606231195
geneviewrs606231195
scholarrs606231195
googlers606231195
pharmgkbrs606231195
gwascentralrs606231195
openSNPrs606231195
23andMers606231195
23andMe allrs606231195
SNP Nexus

SNPshotrs606231195
SNPdbers606231195
MSV3drs606231195
GWAS Ctlgrs606231195
Max Magnitude0
ClinVar
Risk rs606231195(;)
Alt rs606231195(;)
Reference rs606231195(CT;CT)
Significance Pathogenic
Disease Renpenning syndrome 1
Variation info
Gene PQBP1
CLNDBN Renpenning syndrome 1
Reversed 1
HGVS NC_000023.10:g.48759678_48759679delAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000011728.2,