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rs104893867

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893867(A;A)
Make rs104893867(A;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position17504404
GeneQDPR
is asnp
is mentioned by
dbSNPrs104893867
ebirs104893867
HLIrs104893867
Exacrs104893867
Varsomers104893867
Maprs104893867
PheGenIrs104893867
hapmaprs104893867
1000 genomesrs104893867
hgdprs104893867
ensemblrs104893867
gopubmedrs104893867
geneviewrs104893867
scholarrs104893867
googlers104893867
pharmgkbrs104893867
gwascentralrs104893867
openSNPrs104893867
23andMers104893867
23andMe allrs104893867
SNP Nexus

SNPshotrs104893867
SNPdbers104893867
MSV3drs104893867
GWAS Ctlgrs104893867
Max Magnitude0
OMIM612676
Desc
Variant0007
Relatedalso
ClinVar
Risk rs104893867(A;A)
Alt rs104893867(A;A)
Reference rs104893867(G;G)
Significance Pathogenic
Disease Dihydropteridine reductase deficiency
Variation info
Gene QDPR
CLNDBN Dihydropteridine reductase deficiency
Reversed 1
HGVS NC_000004.11:g.17506027C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000524.2,