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rs121912681

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TCT;TCT) 0 common in clinvar
Make rs121912681(-;-)
Make rs121912681(-;TTC)
Make rs121912681(TTC;TTC)
ReferenceGRCh38 38.1/141
Chromosome16
Position88809722
GeneAPRT, CDT1
is asnp
is mentioned by
dbSNPrs121912681
ebirs121912681
HLIrs121912681
Exacrs121912681
Varsomers121912681
Maprs121912681
PheGenIrs121912681
hapmaprs121912681
1000 genomesrs121912681
hgdprs121912681
ensemblrs121912681
gopubmedrs121912681
geneviewrs121912681
scholarrs121912681
googlers121912681
pharmgkbrs121912681
gwascentralrs121912681
openSNPrs121912681
23andMers121912681
23andMe allrs121912681
SNP Nexus

SNPshotrs121912681
SNPdbers121912681
MSV3drs121912681
GWAS Ctlgrs121912681
Max Magnitude0
OMIM102600
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121912681(;)
Alt rs121912681(;)
Reference rs121912681(TCT;TCT)
Significance Pathogenic
Disease Adenine phosphoribosyltransferase deficiency
Variation info
Gene CDT1 APRT
CLNDBN Adenine phosphoribosyltransferase deficiency
Reversed 1
HGVS NC_000016.9:g.88876130_88876132delGAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000019956.28,