Have questions? Visit https://www.reddit.com/r/SNPedia

rs122453116

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs122453116(C;G)
Make rs122453116(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position153693361
GeneSLC6A8
is asnp
is mentioned by
dbSNPrs122453116
ebirs122453116
HLIrs122453116
Exacrs122453116
Varsomers122453116
Maprs122453116
PheGenIrs122453116
hapmaprs122453116
1000 genomesrs122453116
hgdprs122453116
ensemblrs122453116
gopubmedrs122453116
geneviewrs122453116
scholarrs122453116
googlers122453116
pharmgkbrs122453116
gwascentralrs122453116
openSNPrs122453116
23andMers122453116
23andMe allrs122453116
SNP Nexus

SNPshotrs122453116
SNPdbers122453116
MSV3drs122453116
GWAS Ctlgrs122453116
Max Magnitude0
OMIM300036
Desc
Variant0007
Relatedalso
ClinVar
Risk rs122453116(G;G)
Alt rs122453116(G;G)
Reference rs122453116(C;C)
Significance Pathogenic
Disease Creatine deficiency
Variation info
Gene SLC6A8
CLNDBN Creatine deficiency, X-linked
Reversed 0
HGVS NC_000023.10:g.152958816C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000012468.17,