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rs387906584

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906584(C;C)
Make rs387906584(C;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position88809699
GeneAPRT, CDT1
is asnp
is mentioned by
dbSNPrs387906584
ebirs387906584
HLIrs387906584
Exacrs387906584
Varsomers387906584
Maprs387906584
PheGenIrs387906584
hapmaprs387906584
1000 genomesrs387906584
hgdprs387906584
ensemblrs387906584
gopubmedrs387906584
geneviewrs387906584
scholarrs387906584
googlers387906584
pharmgkbrs387906584
gwascentralrs387906584
openSNPrs387906584
23andMers387906584
23andMe allrs387906584
SNP Nexus

SNPshotrs387906584
SNPdbers387906584
MSV3drs387906584
GWAS Ctlgrs387906584
Max Magnitude0
ClinVar
Risk rs387906584(C;C)
Alt rs387906584(C;C)
Reference rs387906584(G;G)
Significance Pathogenic
Disease Adenine phosphoribosyltransferase deficiency
Variation info
Gene CDT1 APRT
CLNDBN Adenine phosphoribosyltransferase deficiency
Reversed 1
HGVS NC_000016.9:g.88876107C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000019964.27,