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rs122453113

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs122453113(C;T)
Make rs122453113(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position153694577
GeneSLC6A8
is asnp
is mentioned by
dbSNPrs122453113
ebirs122453113
HLIrs122453113
Exacrs122453113
Varsomers122453113
Maprs122453113
PheGenIrs122453113
hapmaprs122453113
1000 genomesrs122453113
hgdprs122453113
ensemblrs122453113
gopubmedrs122453113
geneviewrs122453113
scholarrs122453113
googlers122453113
pharmgkbrs122453113
gwascentralrs122453113
openSNPrs122453113
23andMers122453113
23andMe allrs122453113
SNP Nexus

SNPshotrs122453113
SNPdbers122453113
MSV3drs122453113
GWAS Ctlgrs122453113
Max Magnitude0
OMIM300036
Desc
Variant0001
Relatedalso
ClinVar
Risk rs122453113(T;T)
Alt rs122453113(T;T)
Reference rs122453113(C;C)
Significance Pathogenic
Disease Creatine deficiency
Variation info
Gene SLC6A8
CLNDBN Creatine deficiency, X-linked
Reversed 0
HGVS NC_000023.10:g.152960032C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012462.25,