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rs121434611

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434611(C;T)
Make rs121434611(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position111196488
GenePAK3
is asnp
is mentioned by
dbSNPrs121434611
ebirs121434611
HLIrs121434611
Exacrs121434611
Varsomers121434611
Maprs121434611
PheGenIrs121434611
hapmaprs121434611
1000 genomesrs121434611
hgdprs121434611
ensemblrs121434611
gopubmedrs121434611
geneviewrs121434611
scholarrs121434611
googlers121434611
pharmgkbrs121434611
gwascentralrs121434611
openSNPrs121434611
23andMers121434611
23andMe allrs121434611
SNP Nexus

SNPshotrs121434611
SNPdbers121434611
MSV3drs121434611
GWAS Ctlgrs121434611
Max Magnitude0
OMIM300142
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434611(T;T)
Alt rs121434611(T;T)
Reference rs121434611(C;C)
Significance Pathogenic
Disease Mental retardation 30
Variation info
Gene PAK3
CLNDBN Mental retardation 30, X-linked
Reversed 0
HGVS NC_000023.10:g.110439716C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012324.16,