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rs121434613

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434613(A;A)
Make rs121434613(A;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position111194402
GenePAK3
is asnp
is mentioned by
dbSNPrs121434613
ebirs121434613
HLIrs121434613
Exacrs121434613
Varsomers121434613
Maprs121434613
PheGenIrs121434613
hapmaprs121434613
1000 genomesrs121434613
hgdprs121434613
ensemblrs121434613
gopubmedrs121434613
geneviewrs121434613
scholarrs121434613
googlers121434613
pharmgkbrs121434613
gwascentralrs121434613
openSNPrs121434613
23andMers121434613
23andMe allrs121434613
SNP Nexus

SNPshotrs121434613
SNPdbers121434613
MSV3drs121434613
GWAS Ctlgrs121434613
Max Magnitude0
OMIM300142
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121434613(A;A)
Alt rs121434613(A;A)
Reference rs121434613(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.110437630C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012326.22,