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rs122468182

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs122468182(G;G)
Make rs122468182(G;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position119843293
GeneUPF3B
is asnp
is mentioned by
dbSNPrs122468182
dbSNP (old)rs122468182
ClinGenrs122468182
ebirs122468182
HLIrs122468182
Exacrs122468182
Gnomadrs122468182
Varsomers122468182
Maprs122468182
PheGenIrs122468182
Biobankrs122468182
1000 genomesrs122468182
hgdprs122468182
ensemblrs122468182
gopubmedrs122468182
geneviewrs122468182
scholarrs122468182
googlers122468182
pharmgkbrs122468182
gwascentralrs122468182
openSNPrs122468182
23andMers122468182
23andMe allrs122468182
SNP Nexus

SNPshotrs122468182
SNPdbers122468182
MSV3drs122468182
GWAS Ctlgrs122468182
Max Magnitude0
OMIM300298
Desc
Variant0004
Relatedalso
ClinVar
Risk rs122468182(G;G)
Alt rs122468182(G;G)
Reference Rs122468182(T;T)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene UPF3B
CLNDBN Mental retardation, syndromic 14, X-linked
Reversed 1
HGVS NC_000023.10:g.118977256A>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000012154.17,