Have questions? Visit https://www.reddit.com/r/SNPedia

rs397514453

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397514453(A;C)
Make rs397514453(C;C)
ReferenceGRCh38 38.1/141
Chromosome10
Position74525404
GeneADK
is asnp
is mentioned by
dbSNPrs397514453
ebirs397514453
HLIrs397514453
Exacrs397514453
Varsomers397514453
Maprs397514453
PheGenIrs397514453
hapmaprs397514453
1000 genomesrs397514453
hgdprs397514453
ensemblrs397514453
gopubmedrs397514453
geneviewrs397514453
scholarrs397514453
googlers397514453
pharmgkbrs397514453
gwascentralrs397514453
openSNPrs397514453
23andMers397514453
23andMe allrs397514453
SNP Nexus

SNPshotrs397514453
SNPdbers397514453
MSV3drs397514453
GWAS Ctlgrs397514453
Max Magnitude0
ClinVar
Risk rs397514453(C;C)
Alt rs397514453(C;C)
Reference rs397514453(A;A)
Significance Pathogenic
Disease Hypermethioninemia due to adenosine kinase deficiency
Variation info
Gene ADK LOC102723439
CLNDBN Hypermethioninemia due to adenosine kinase deficiency
Reversed 0
HGVS NC_000010.10:g.76285162A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000022444.27,