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rs397514452

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514452(A;A)
Make rs397514452(A;C)
ReferenceGRCh38 38.1/141
Chromosome10
Position74670258
GeneADK
is asnp
is mentioned by
dbSNPrs397514452
ebirs397514452
HLIrs397514452
Exacrs397514452
Varsomers397514452
Maprs397514452
PheGenIrs397514452
hapmaprs397514452
1000 genomesrs397514452
hgdprs397514452
ensemblrs397514452
gopubmedrs397514452
geneviewrs397514452
scholarrs397514452
googlers397514452
pharmgkbrs397514452
gwascentralrs397514452
openSNPrs397514452
23andMers397514452
23andMe allrs397514452
SNP Nexus

SNPshotrs397514452
SNPdbers397514452
MSV3drs397514452
GWAS Ctlgrs397514452
Max Magnitude0
ClinVar
Risk rs397514452(A;A)
Alt rs397514452(A;A)
Reference rs397514452(C;C)
Significance Pathogenic
Disease Hypermethioninemia due to adenosine kinase deficiency
Variation info
Gene ADK
CLNDBN Hypermethioninemia due to adenosine kinase deficiency
Reversed 0
HGVS NC_000010.10:g.76430016C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000022443.27,