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rs122455132

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs122455132(C;C)
Make rs122455132(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position74529232
GeneSLC16A2
is asnp
is mentioned by
dbSNPrs122455132
ebirs122455132
HLIrs122455132
Exacrs122455132
Varsomers122455132
Maprs122455132
PheGenIrs122455132
hapmaprs122455132
1000 genomesrs122455132
hgdprs122455132
ensemblrs122455132
gopubmedrs122455132
geneviewrs122455132
scholarrs122455132
googlers122455132
pharmgkbrs122455132
gwascentralrs122455132
openSNPrs122455132
23andMers122455132
23andMe allrs122455132
SNP Nexus

SNPshotrs122455132
SNPdbers122455132
MSV3drs122455132
GWAS Ctlgrs122455132
Max Magnitude0
OMIM300095
Desc
Variant0005
Relatedalso
ClinVar
Risk rs122455132(C;C)
Alt rs122455132(C;C)
Reference rs122455132(T;T)
Significance Pathogenic
Disease Allan-Herndon-Dudley syndrome Intellectual disability
Variation info
Gene SLC16A2
CLNDBN Allan-Herndon-Dudley syndrome Intellectual disability
Reversed 0
HGVS NC_000023.10:g.73749067T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000012402.22, RCV000224792.1,