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rs104893866

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104893866(A;G)
Make rs104893866(G;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position17492328
GeneQDPR
is asnp
is mentioned by
dbSNPrs104893866
ebirs104893866
HLIrs104893866
Exacrs104893866
Varsomers104893866
Maprs104893866
PheGenIrs104893866
hapmaprs104893866
1000 genomesrs104893866
hgdprs104893866
ensemblrs104893866
gopubmedrs104893866
geneviewrs104893866
scholarrs104893866
googlers104893866
pharmgkbrs104893866
gwascentralrs104893866
openSNPrs104893866
23andMers104893866
23andMe allrs104893866
SNP Nexus

SNPshotrs104893866
SNPdbers104893866
MSV3drs104893866
GWAS Ctlgrs104893866
Max Magnitude0
OMIM612676
Desc
Variant0006
Relatedalso
ClinVar
Risk rs104893866(G;G)
Alt rs104893866(G;G)
Reference rs104893866(A;A)
Significance Pathogenic
Disease Dihydropteridine reductase deficiency
Variation info
Gene QDPR
CLNDBN Dihydropteridine reductase deficiency
Reversed 1
HGVS NC_000004.11:g.17493951T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000523.2,