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rs104893865

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104893865(C;C)
Make rs104893865(C;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position17509363
GeneQDPR
is asnp
is mentioned by
dbSNPrs104893865
ebirs104893865
HLIrs104893865
Exacrs104893865
Varsomers104893865
Maprs104893865
PheGenIrs104893865
hapmaprs104893865
1000 genomesrs104893865
hgdprs104893865
ensemblrs104893865
gopubmedrs104893865
geneviewrs104893865
scholarrs104893865
googlers104893865
pharmgkbrs104893865
gwascentralrs104893865
openSNPrs104893865
23andMers104893865
23andMe allrs104893865
SNP Nexus

SNPshotrs104893865
SNPdbers104893865
MSV3drs104893865
GWAS Ctlgrs104893865
Max Magnitude0
OMIM612676
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104893865(C;C)
Alt rs104893865(C;C)
Reference rs104893865(T;T)
Significance Pathogenic
Disease Dihydropteridine reductase deficiency
Variation info
Gene QDPR
CLNDBN Dihydropteridine reductase deficiency
Reversed 1
HGVS NC_000004.11:g.17510986A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000521.2,