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rs104894629

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894629(C;T)
Make rs104894629(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position47946681
GenePNPO
is asnp
is mentioned by
dbSNPrs104894629
ebirs104894629
HLIrs104894629
Exacrs104894629
Varsomers104894629
Maprs104894629
PheGenIrs104894629
hapmaprs104894629
1000 genomesrs104894629
hgdprs104894629
ensemblrs104894629
gopubmedrs104894629
geneviewrs104894629
scholarrs104894629
googlers104894629
pharmgkbrs104894629
gwascentralrs104894629
openSNPrs104894629
23andMers104894629
23andMe allrs104894629
SNP Nexus

SNPshotrs104894629
SNPdbers104894629
MSV3drs104894629
GWAS Ctlgrs104894629
GMAF0.0004591
Max Magnitude0
OMIM603287
Desc
Variant0001
Relatedalso
Also known as PNPO Arg229Trp. Lower PNPO activity with T allele. PNPO produces pyridoxal-5'-phosphate, the bio-active form of vitamin B6.
ClinVar
Risk rs104894629(T;T)
Alt rs104894629(T;T)
Reference rs104894629(C;C)
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.46024047C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006896.3,