Rs104894508

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Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894508(C;C)
Make rs104894508(C;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position88810141
GeneAPRT
is asnp
is mentioned by
dbSNPrs104894508
Exacrs104894508
PheGenIrs104894508
nextbiors104894508
hapmaprs104894508
1000 genomesrs104894508
hgdprs104894508
ensemblrs104894508
gopubmedrs104894508
geneviewrs104894508
scholarrs104894508
googlers104894508
pharmgkbrs104894508
gwascentralrs104894508
openSNPrs104894508
23andMers104894508
23andMe allrs104894508
SNP Nexus

SNPshotrs104894508
SNPdbers104894508
MSV3drs104894508
Max Magnitude0
OMIM102600
Desc
Variant0007
Relatedalso
ClinVar
Risk rs104894508(C;C)
Alt rs104894508(C;C)
Reference rs104894508(T;T)
Significance Pathogenic
Disease Aprt deficiency
Variation info
Gene APRT
CLNDBN Aprt deficiency
Reversed 1
HGVS NC_000016.9:g.88876549A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000019962.25,