Have questions? Visit https://www.reddit.com/r/SNPedia

rs121434614

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434614(C;C)
Make rs121434614(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position111196570
GenePAK3
is asnp
is mentioned by
dbSNPrs121434614
ebirs121434614
HLIrs121434614
Exacrs121434614
Varsomers121434614
Maprs121434614
PheGenIrs121434614
hapmaprs121434614
1000 genomesrs121434614
hgdprs121434614
ensemblrs121434614
gopubmedrs121434614
geneviewrs121434614
scholarrs121434614
googlers121434614
pharmgkbrs121434614
gwascentralrs121434614
openSNPrs121434614
23andMers121434614
23andMe allrs121434614
SNP Nexus

SNPshotrs121434614
SNPdbers121434614
MSV3drs121434614
GWAS Ctlgrs121434614
Max Magnitude0
OMIM300142
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121434614(C;C)
Alt rs121434614(C;C)
Reference rs121434614(G;G)
Significance Pathogenic
Disease Mental retardation 30
Variation info
Gene PAK3
CLNDBN Mental retardation 30, X-linked
Reversed 0
HGVS NC_000023.10:g.110439798G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000012327.24,