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rs122453115

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs122453115(A;A)
Make rs122453115(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position153688833
GeneSLC6A8
is asnp
is mentioned by
dbSNPrs122453115
ebirs122453115
HLIrs122453115
Exacrs122453115
Varsomers122453115
Maprs122453115
PheGenIrs122453115
hapmaprs122453115
1000 genomesrs122453115
hgdprs122453115
ensemblrs122453115
gopubmedrs122453115
geneviewrs122453115
scholarrs122453115
googlers122453115
pharmgkbrs122453115
gwascentralrs122453115
openSNPrs122453115
23andMers122453115
23andMe allrs122453115
SNP Nexus

SNPshotrs122453115
SNPdbers122453115
MSV3drs122453115
GWAS Ctlgrs122453115
Max Magnitude0
OMIM300036
Desc
Variant0005
Relatedalso
ClinVar
Risk rs122453115(A;A)
Alt rs122453115(A;A)
Reference rs122453115(G;G)
Significance Pathogenic
Disease Creatine deficiency
Variation info
Gene SLC6A8
CLNDBN Creatine deficiency, X-linked
Reversed 0
HGVS NC_000023.10:g.152954288G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012466.25,