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rs122468181

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs122468181(C;T)
Make rs122468181(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position119837771
GeneUPF3B
is asnp
is mentioned by
dbSNPrs122468181
ebirs122468181
HLIrs122468181
Exacrs122468181
Varsomers122468181
Maprs122468181
PheGenIrs122468181
hapmaprs122468181
1000 genomesrs122468181
hgdprs122468181
ensemblrs122468181
gopubmedrs122468181
geneviewrs122468181
scholarrs122468181
googlers122468181
pharmgkbrs122468181
gwascentralrs122468181
openSNPrs122468181
23andMers122468181
23andMe allrs122468181
SNP Nexus

SNPshotrs122468181
SNPdbers122468181
MSV3drs122468181
GWAS Ctlgrs122468181
Max Magnitude0
OMIM300298
Desc
Variant0003
Relatedalso
ClinVar
Risk rs122468181(A,T;A,T)
Alt rs122468181(A,T;A,T)
Reference rs122468181(C;C)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene UPF3B
CLNDBN Mental retardation, syndromic 14, X-linked
Reversed 1
HGVS NC_000023.10:g.118971734G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012153.12,