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rs281860263

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs281860263(-;T)
Make rs281860263(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position88810420
GeneAPRT
is asnp
is mentioned by
dbSNPrs281860263
dbSNP (old)rs281860263
ClinGenrs281860263
ebirs281860263
HLIrs281860263
Exacrs281860263
Gnomadrs281860263
Varsomers281860263
Maprs281860263
PheGenIrs281860263
Biobankrs281860263
1000 genomesrs281860263
hgdprs281860263
ensemblrs281860263
gopubmedrs281860263
geneviewrs281860263
scholarrs281860263
googlers281860263
pharmgkbrs281860263
gwascentralrs281860263
openSNPrs281860263
23andMers281860263
23andMe allrs281860263
SNP Nexus

SNPshotrs281860263
SNPdbers281860263
MSV3drs281860263
GWAS Ctlgrs281860263
Max Magnitude0
ClinVar
Risk rs281860263(T;T)
Alt rs281860263(T;T)
Reference Rs281860263(-;-)
Significance Pathogenic
Disease Adenine phosphoribosyltransferase deficiency
Variation info
Gene APRT
CLNDBN Adenine phosphoribosyltransferase deficiency
Reversed 1
HGVS NC_000016.9:g.88876829dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000033907.5,