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rs606231194

From SNPedia

Orientationminus
Geno Mag Summary
(CTCT;CTCT) 0 common in clinvar
Make rs606231194(-;-)
Make rs606231194(-;CTCT)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position48902399
GenePQBP1
is asnp
is mentioned by
dbSNPrs606231194
ebirs606231194
HLIrs606231194
Exacrs606231194
Varsomers606231194
Maprs606231194
PheGenIrs606231194
hapmaprs606231194
1000 genomesrs606231194
hgdprs606231194
ensemblrs606231194
gopubmedrs606231194
geneviewrs606231194
scholarrs606231194
googlers606231194
pharmgkbrs606231194
gwascentralrs606231194
openSNPrs606231194
23andMers606231194
23andMe allrs606231194
SNP Nexus

SNPshotrs606231194
SNPdbers606231194
MSV3drs606231194
GWAS Ctlgrs606231194
Max Magnitude0
ClinVar
Risk rs606231194(;)
Alt rs606231194(;)
Reference rs606231194(CTCT;CTCT)
Significance Pathogenic
Disease Renpenning syndrome 1
Variation info
Gene PQBP1
CLNDBN Renpenning syndrome 1
Reversed 1
HGVS NC_000023.10:g.48759676_48759679delAGAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000011727.6,