Have questions? Visit https://www.reddit.com/r/SNPedia

rs550423482

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs550423482(A;A)
Make rs550423482(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position47946670
GenePNPO
is asnp
is mentioned by
dbSNPrs550423482
dbSNP (old)rs550423482
ClinGenrs550423482
ebirs550423482
HLIrs550423482
Exacrs550423482
Varsomers550423482
Maprs550423482
PheGenIrs550423482
Biobankrs550423482
1000 genomesrs550423482
hgdprs550423482
ensemblrs550423482
gopubmedrs550423482
geneviewrs550423482
scholarrs550423482
googlers550423482
pharmgkbrs550423482
gwascentralrs550423482
openSNPrs550423482
23andMers550423482
23andMe allrs550423482
SNP Nexus

SNPshotrs550423482
SNPdbers550423482
MSV3drs550423482
GWAS Ctlgrs550423482
Max Magnitude0
ClinVar
Risk rs550423482(A;A) rs550423482(T;T)
Alt rs550423482(A;A) rs550423482(T;T)
Reference Rs550423482(G;G)
Significance Pathogenic
Disease Pyridoxal 5'-phosphate-dependent epilepsy Growth delay Intrauterine growth retardation Seizures not provided
Variation info
Gene PNPO
CLNDBN Pyridoxal 5'-phosphate-dependent epilepsy Growth delay Intrauterine growth retardation Seizures not provided
Reversed 0
HGVS NC_000017.10:g.46024036G>A; NC_000017.10:g.46024036G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000208779.1, RCV000414812.1, RCV000188499.2,