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rs397514454

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514454(A;A)
Make rs397514454(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position74200787
GeneADK
is asnp
is mentioned by
dbSNPrs397514454
ebirs397514454
HLIrs397514454
Exacrs397514454
Varsomers397514454
Maprs397514454
PheGenIrs397514454
hapmaprs397514454
1000 genomesrs397514454
hgdprs397514454
ensemblrs397514454
gopubmedrs397514454
geneviewrs397514454
scholarrs397514454
googlers397514454
pharmgkbrs397514454
gwascentralrs397514454
openSNPrs397514454
23andMers397514454
23andMe allrs397514454
SNP Nexus

SNPshotrs397514454
SNPdbers397514454
MSV3drs397514454
GWAS Ctlgrs397514454
Max Magnitude0
ClinVar
Risk rs397514454(A;A)
Alt rs397514454(A;A)
Reference rs397514454(G;G)
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.75960545G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000022445.26,