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rs28999113

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs28999113(C;C)
Make rs28999113(C;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position88809834
GeneAPRT
is asnp
is mentioned by
dbSNPrs28999113
ebirs28999113
HLIrs28999113
Exacrs28999113
Varsomers28999113
Maprs28999113
PheGenIrs28999113
hapmaprs28999113
1000 genomesrs28999113
hgdprs28999113
ensemblrs28999113
gopubmedrs28999113
geneviewrs28999113
scholarrs28999113
googlers28999113
pharmgkbrs28999113
gwascentralrs28999113
openSNPrs28999113
23andMers28999113
23andMe allrs28999113
SNP Nexus

SNPshotrs28999113
SNPdbers28999113
MSV3drs28999113
GWAS Ctlgrs28999113
Max Magnitude0
OMIM102600
DescAPRT DEFICIENCY, JAPANESE TYPE
Variant0003
Relatedalso


ClinVar
Risk rs28999113(C;C)
Alt rs28999113(C;C)
Reference rs28999113(T;T)
Significance Pathogenic
Disease APRT deficiency Adenine phosphoribosyltransferase deficiency
Variation info
Gene APRT
CLNDBN APRT deficiency, Japanese type Adenine phosphoribosyltransferase deficiency
Reversed 1
HGVS NC_000016.9:g.88876242A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000019958.27, RCV000033908.1,