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rs104894631

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894631(C;C)
Make rs104894631(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position47946780
GenePNPO
is asnp
is mentioned by
dbSNPrs104894631
ebirs104894631
HLIrs104894631
Exacrs104894631
Varsomers104894631
Maprs104894631
PheGenIrs104894631
hapmaprs104894631
1000 genomesrs104894631
hgdprs104894631
ensemblrs104894631
gopubmedrs104894631
geneviewrs104894631
scholarrs104894631
googlers104894631
pharmgkbrs104894631
gwascentralrs104894631
openSNPrs104894631
23andMers104894631
23andMe allrs104894631
SNP Nexus

SNPshotrs104894631
SNPdbers104894631
MSV3drs104894631
GWAS Ctlgrs104894631
Max Magnitude0
OMIM603287
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894631(C;C)
Alt rs104894631(C;C)
Reference rs104894631(T;T)
Significance Pathogenic
Disease Pyridoxal 5'-phosphate-dependent epilepsy
Variation info
Gene PNPO
CLNDBN Pyridoxal 5'-phosphate-dependent epilepsy
Reversed 0
HGVS NC_000017.10:g.46024146T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000006898.3,