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rs397515558

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397515558(C;T)
Make rs397515558(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position153694753
GeneSLC6A8
is asnp
is mentioned by
dbSNPrs397515558
ebirs397515558
HLIrs397515558
Exacrs397515558
Varsomers397515558
Maprs397515558
PheGenIrs397515558
hapmaprs397515558
1000 genomesrs397515558
hgdprs397515558
ensemblrs397515558
gopubmedrs397515558
geneviewrs397515558
scholarrs397515558
googlers397515558
pharmgkbrs397515558
gwascentralrs397515558
openSNPrs397515558
23andMers397515558
23andMe allrs397515558
SNP Nexus

SNPshotrs397515558
SNPdbers397515558
MSV3drs397515558
GWAS Ctlgrs397515558
Max Magnitude0
ClinVar
Risk rs397515558(T;T)
Alt rs397515558(T;T)
Reference rs397515558(C;C)
Significance Pathogenic
Disease Creatine deficiency
Variation info
Gene SLC6A8
CLNDBN Creatine deficiency, X-linked
Reversed 0
HGVS NC_000023.10:g.152960208C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000055918.1,