Rs104894507

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Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894507(A;A)
Make rs104894507(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position88810450
GeneAPRT
is asnp
is mentioned by
dbSNPrs104894507
Exacrs104894507
PheGenIrs104894507
nextbiors104894507
hapmaprs104894507
1000 genomesrs104894507
hgdprs104894507
ensemblrs104894507
gopubmedrs104894507
geneviewrs104894507
scholarrs104894507
googlers104894507
pharmgkbrs104894507
gwascentralrs104894507
openSNPrs104894507
23andMers104894507
23andMe allrs104894507
SNP Nexus

SNPshotrs104894507
SNPdbers104894507
MSV3drs104894507
Max Magnitude0
OMIM102600
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104894507(A;A)
Alt rs104894507(A;A)
Reference rs104894507(G;G)
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.88876858C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000030947.26, RCV000033905.2,