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rs121434612

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434612(C;T)
Make rs121434612(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position111142119
GenePAK3
is asnp
is mentioned by
dbSNPrs121434612
ebirs121434612
HLIrs121434612
Exacrs121434612
Varsomers121434612
Maprs121434612
PheGenIrs121434612
hapmaprs121434612
1000 genomesrs121434612
hgdprs121434612
ensemblrs121434612
gopubmedrs121434612
geneviewrs121434612
scholarrs121434612
googlers121434612
pharmgkbrs121434612
gwascentralrs121434612
openSNPrs121434612
23andMers121434612
23andMe allrs121434612
SNP Nexus

SNPshotrs121434612
SNPdbers121434612
MSV3drs121434612
GWAS Ctlgrs121434612
Max Magnitude0
OMIM300142
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121434612(T;T)
Alt rs121434612(T;T)
Reference Rs121434612(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.110385347C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000012325.14,