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rs104893863

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893863(A;A)
Make rs104893863(A;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position17511987
GeneQDPR
is asnp
is mentioned by
dbSNPrs104893863
ebirs104893863
HLIrs104893863
Exacrs104893863
Varsomers104893863
Maprs104893863
PheGenIrs104893863
hapmaprs104893863
1000 genomesrs104893863
hgdprs104893863
ensemblrs104893863
gopubmedrs104893863
geneviewrs104893863
scholarrs104893863
googlers104893863
pharmgkbrs104893863
gwascentralrs104893863
openSNPrs104893863
23andMers104893863
23andMe allrs104893863
SNP Nexus

SNPshotrs104893863
SNPdbers104893863
MSV3drs104893863
GWAS Ctlgrs104893863
Max Magnitude0
OMIM612676
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104893863(A;A)
Alt rs104893863(A;A)
Reference rs104893863(G;G)
Significance Pathogenic
Disease Dihydropteridine reductase deficiency
Variation info
Gene QDPR
CLNDBN Dihydropteridine reductase deficiency
Reversed 1
HGVS NC_000004.11:g.17513610C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000519.2,