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rs281860266

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281860266(G;T)
Make rs281860266(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position88809793
GeneAPRT
is asnp
is mentioned by
dbSNPrs281860266
ebirs281860266
HLIrs281860266
Exacrs281860266
Varsomers281860266
Maprs281860266
PheGenIrs281860266
hapmaprs281860266
1000 genomesrs281860266
hgdprs281860266
ensemblrs281860266
gopubmedrs281860266
geneviewrs281860266
scholarrs281860266
googlers281860266
pharmgkbrs281860266
gwascentralrs281860266
openSNPrs281860266
23andMers281860266
23andMe allrs281860266
SNP Nexus

SNPshotrs281860266
SNPdbers281860266
MSV3drs281860266
GWAS Ctlgrs281860266
Max Magnitude0
ClinVar
Risk rs281860266(T;T)
Alt rs281860266(T;T)
Reference rs281860266(G;G)
Significance Pathogenic
Disease Adenine phosphoribosyltransferase deficiency
Variation info
Gene APRT
CLNDBN Adenine phosphoribosyltransferase deficiency
Reversed 1
HGVS NC_000016.9:g.88876201C>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000033909.1,