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rs121917899

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121917899(A;G)
Make rs121917899(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position48901944
GenePQBP1
is asnp
is mentioned by
dbSNPrs121917899
ebirs121917899
HLIrs121917899
Exacrs121917899
Varsomers121917899
Maprs121917899
PheGenIrs121917899
hapmaprs121917899
1000 genomesrs121917899
hgdprs121917899
ensemblrs121917899
gopubmedrs121917899
geneviewrs121917899
scholarrs121917899
googlers121917899
pharmgkbrs121917899
gwascentralrs121917899
openSNPrs121917899
23andMers121917899
23andMe allrs121917899
SNP Nexus

SNPshotrs121917899
SNPdbers121917899
MSV3drs121917899
GWAS Ctlgrs121917899
Max Magnitude0
ClinVar
Risk rs121917899(G;G)
Alt rs121917899(G;G)
Reference rs121917899(A;A)
Significance Pathogenic
Disease Renpenning syndrome 1
Variation info
Gene PQBP1
CLNDBN Renpenning syndrome 1
Reversed 0
HGVS NC_000023.10:g.48759221A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000011732.6,