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rs104893864

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104893864(G;G)
Make rs104893864(G;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position17501833
GeneQDPR
is asnp
is mentioned by
dbSNPrs104893864
ebirs104893864
HLIrs104893864
Exacrs104893864
Varsomers104893864
Maprs104893864
PheGenIrs104893864
hapmaprs104893864
1000 genomesrs104893864
hgdprs104893864
ensemblrs104893864
gopubmedrs104893864
geneviewrs104893864
scholarrs104893864
googlers104893864
pharmgkbrs104893864
gwascentralrs104893864
openSNPrs104893864
23andMers104893864
23andMe allrs104893864
SNP Nexus

SNPshotrs104893864
SNPdbers104893864
MSV3drs104893864
GWAS Ctlgrs104893864
Max Magnitude0
OMIM612676
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104893864(G;G)
Alt rs104893864(G;G)
Reference rs104893864(T;T)
Significance Pathogenic
Disease Dihydropteridine reductase deficiency
Variation info
Gene QDPR
CLNDBN Dihydropteridine reductase deficiency
Reversed 1
HGVS NC_000004.11:g.17503456A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000520.2,