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rs773450573

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs773450573(A;A)
Make rs773450573(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position47946682
GenePNPO
is asnp
is mentioned by
dbSNPrs773450573
ebirs773450573
HLIrs773450573
Exacrs773450573
Varsomers773450573
Maprs773450573
PheGenIrs773450573
hapmaprs773450573
1000 genomesrs773450573
hgdprs773450573
ensemblrs773450573
gopubmedrs773450573
geneviewrs773450573
scholarrs773450573
googlers773450573
pharmgkbrs773450573
gwascentralrs773450573
openSNPrs773450573
23andMers773450573
23andMe allrs773450573
SNP Nexus

SNPshotrs773450573
SNPdbers773450573
MSV3drs773450573
GWAS Ctlgrs773450573
Max Magnitude0
ClinVar
Risk rs773450573(A;A)
Alt rs773450573(A;A)
Reference rs773450573(G;G)
Significance Pathogenic
Disease not provided Pyridoxal 5'-phosphate-dependent epilepsy
Variation info
Gene PNPO
CLNDBN not provided Pyridoxal 5'-phosphate-dependent epilepsy
Reversed 0
HGVS NC_000017.10:g.46024048G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000188500.1, RCV000208780.1,