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rs122453117

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs122453117(G;T)
Make rs122453117(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position153691304
GeneSLC6A8
is asnp
is mentioned by
dbSNPrs122453117
ebirs122453117
HLIrs122453117
Exacrs122453117
Varsomers122453117
Maprs122453117
PheGenIrs122453117
hapmaprs122453117
1000 genomesrs122453117
hgdprs122453117
ensemblrs122453117
gopubmedrs122453117
geneviewrs122453117
scholarrs122453117
googlers122453117
pharmgkbrs122453117
gwascentralrs122453117
openSNPrs122453117
23andMers122453117
23andMe allrs122453117
SNP Nexus

SNPshotrs122453117
SNPdbers122453117
MSV3drs122453117
GWAS Ctlgrs122453117
Max Magnitude0
OMIM300036
Desc
Variant0008
Relatedalso
ClinVar
Risk rs122453117(T;T)
Alt rs122453117(T;T)
Reference rs122453117(G;G)
Significance Pathogenic
Disease Creatine deficiency
Variation info
Gene SLC6A8
CLNDBN Creatine deficiency, X-linked
Reversed 0
HGVS NC_000023.10:g.152956759G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012469.15,