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rs774710082

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs774710082(A;A)
Make rs774710082(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position47945558
GenePNPO
is asnp
is mentioned by
dbSNPrs774710082
ebirs774710082
HLIrs774710082
Exacrs774710082
Varsomers774710082
Maprs774710082
PheGenIrs774710082
hapmaprs774710082
1000 genomesrs774710082
hgdprs774710082
ensemblrs774710082
gopubmedrs774710082
geneviewrs774710082
scholarrs774710082
googlers774710082
pharmgkbrs774710082
gwascentralrs774710082
openSNPrs774710082
23andMers774710082
23andMe allrs774710082
SNP Nexus

SNPshotrs774710082
SNPdbers774710082
MSV3drs774710082
GWAS Ctlgrs774710082
Max Magnitude0
ClinVar
Risk rs774710082(A;A)
Alt rs774710082(A;A)
Reference rs774710082(G;G)
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.46022924G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006897.3,