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rs397515559

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397515559(C;T)
Make rs397515559(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position153694783
GeneSLC6A8
is asnp
is mentioned by
dbSNPrs397515559
ebirs397515559
HLIrs397515559
Exacrs397515559
Varsomers397515559
Maprs397515559
PheGenIrs397515559
hapmaprs397515559
1000 genomesrs397515559
hgdprs397515559
ensemblrs397515559
gopubmedrs397515559
geneviewrs397515559
scholarrs397515559
googlers397515559
pharmgkbrs397515559
gwascentralrs397515559
openSNPrs397515559
23andMers397515559
23andMe allrs397515559
SNP Nexus

SNPshotrs397515559
SNPdbers397515559
MSV3drs397515559
GWAS Ctlgrs397515559
Max Magnitude0
ClinVar
Risk rs397515559(T;T)
Alt rs397515559(T;T)
Reference rs397515559(C;C)
Significance Pathogenic
Disease Creatine deficiency
Variation info
Gene SLC6A8
CLNDBN Creatine deficiency, X-linked
Reversed 0
HGVS NC_000023.10:g.152960238C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000055919.1,