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rs281860265

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs281860265(-;-)
Make rs281860265(-;CCGA)
Make rs281860265(CCGA;CCGA)
ReferenceGRCh38 38.1/141
Chromosome16
Position88810482
GeneAPRT
is asnp
is mentioned by
dbSNPrs281860265
ebirs281860265
HLIrs281860265
Exacrs281860265
Varsomers281860265
Maprs281860265
PheGenIrs281860265
hapmaprs281860265
1000 genomesrs281860265
hgdprs281860265
ensemblrs281860265
gopubmedrs281860265
geneviewrs281860265
scholarrs281860265
googlers281860265
pharmgkbrs281860265
gwascentralrs281860265
openSNPrs281860265
23andMers281860265
23andMe allrs281860265
SNP Nexus

SNPshotrs281860265
SNPdbers281860265
MSV3drs281860265
GWAS Ctlgrs281860265
Max Magnitude0
ClinVar
Risk rs281860265(CCGA;CCGA)
Alt rs281860265(CCGA;CCGA)
Reference rs281860265(;)
Significance Pathogenic
Disease Adenine phosphoribosyltransferase deficiency
Variation info
Gene APRT
CLNDBN Adenine phosphoribosyltransferase deficiency
Reversed 1
HGVS NC_000016.9:g.88876891_88876894dupTCGG
CLNSRC OMIM Allelic Variant
CLNACC RCV000033904.5,