Rs104894506

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Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894506(A;T)
Make rs104894506(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position88810550
GeneAPRT
is asnp
is mentioned by
dbSNPrs104894506
Exacrs104894506
PheGenIrs104894506
nextbiors104894506
hapmaprs104894506
1000 genomesrs104894506
hgdprs104894506
ensemblrs104894506
gopubmedrs104894506
geneviewrs104894506
scholarrs104894506
googlers104894506
pharmgkbrs104894506
gwascentralrs104894506
openSNPrs104894506
23andMers104894506
23andMe allrs104894506
SNP Nexus

SNPshotrs104894506
SNPdbers104894506
MSV3drs104894506
OMIM102600
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104894506(T;T)
Alt rs104894506(T;T)
Reference rs104894506(A;A)
Significance Pathogenic
Disease Aprt deficiency Deficiency of AMP pyrophorylase
Variation info
Gene APRT
CLNDBN Aprt deficiency Deficiency of AMP pyrophorylase
Reversed 1
HGVS NC_000016.9:g.88876958T>A
CLNSRC GeneReviews OMIM Allelic Variant
CLNACC RCV000030946.26, RCV000033903.2,