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rs281860264

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281860264(A;A)
Make rs281860264(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position88810451
GeneAPRT
is asnp
is mentioned by
dbSNPrs281860264
ebirs281860264
HLIrs281860264
Exacrs281860264
Varsomers281860264
Maprs281860264
PheGenIrs281860264
hapmaprs281860264
1000 genomesrs281860264
hgdprs281860264
ensemblrs281860264
gopubmedrs281860264
geneviewrs281860264
scholarrs281860264
googlers281860264
pharmgkbrs281860264
gwascentralrs281860264
openSNPrs281860264
23andMers281860264
23andMe allrs281860264
SNP Nexus

SNPshotrs281860264
SNPdbers281860264
MSV3drs281860264
GWAS Ctlgrs281860264
Max Magnitude0
ClinVar
Risk rs281860264(A;A)
Alt rs281860264(A;A)
Reference rs281860264(G;G)
Significance Pathogenic
Disease Deficiency of AMP pyrophorylase
Variation info
Gene
CLNDBN Deficiency of AMP pyrophorylase
Reversed 1
HGVS NC_000016.9:g.88876859C>T
CLNSRC GeneReviews
CLNACC RCV000033905.2,