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rs122453114

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs122453114(C;C)
Make rs122453114(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position153693586
GeneSLC6A8
is asnp
is mentioned by
dbSNPrs122453114
ebirs122453114
HLIrs122453114
Exacrs122453114
Varsomers122453114
Maprs122453114
PheGenIrs122453114
hapmaprs122453114
1000 genomesrs122453114
hgdprs122453114
ensemblrs122453114
gopubmedrs122453114
geneviewrs122453114
scholarrs122453114
googlers122453114
pharmgkbrs122453114
gwascentralrs122453114
openSNPrs122453114
23andMers122453114
23andMe allrs122453114
SNP Nexus

SNPshotrs122453114
SNPdbers122453114
MSV3drs122453114
GWAS Ctlgrs122453114
Max Magnitude0
OMIM300036
Desc
Variant0002
Relatedalso
ClinVar
Risk rs122453114(C;C)
Alt rs122453114(C;C)
Reference rs122453114(G;G)
Significance Pathogenic
Disease Creatine deficiency
Variation info
Gene SLC6A8
CLNDBN Creatine deficiency, X-linked
Reversed 0
HGVS NC_000023.10:g.152959041G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000012463.23,