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rs122453118

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs122453118(C;G)
Make rs122453118(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position153694424
GeneSLC6A8
is asnp
is mentioned by
dbSNPrs122453118
ebirs122453118
HLIrs122453118
Exacrs122453118
Varsomers122453118
Maprs122453118
PheGenIrs122453118
hapmaprs122453118
1000 genomesrs122453118
hgdprs122453118
ensemblrs122453118
gopubmedrs122453118
geneviewrs122453118
scholarrs122453118
googlers122453118
pharmgkbrs122453118
gwascentralrs122453118
openSNPrs122453118
23andMers122453118
23andMe allrs122453118
SNP Nexus

SNPshotrs122453118
SNPdbers122453118
MSV3drs122453118
GWAS Ctlgrs122453118
Max Magnitude0
OMIM300036
Desc
Variant0009
Relatedalso
ClinVar
Risk rs122453118(G,T;G,T)
Alt rs122453118(G,T;G,T)
Reference rs122453118(C;C)
Significance Pathogenic
Disease Creatine deficiency
Variation info
Gene SLC6A8
CLNDBN Creatine deficiency, X-linked
Reversed 0
HGVS NC_000023.10:g.152959879C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000012470.25,