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rs267606958

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267606958(C;T)
Make rs267606958(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position47945963
GenePNPO
is asnp
is mentioned by
dbSNPrs267606958
ebirs267606958
HLIrs267606958
Exacrs267606958
Varsomers267606958
Maprs267606958
PheGenIrs267606958
hapmaprs267606958
1000 genomesrs267606958
hgdprs267606958
ensemblrs267606958
gopubmedrs267606958
geneviewrs267606958
scholarrs267606958
googlers267606958
pharmgkbrs267606958
gwascentralrs267606958
openSNPrs267606958
23andMers267606958
23andMe allrs267606958
SNP Nexus

SNPshotrs267606958
SNPdbers267606958
MSV3drs267606958
GWAS Ctlgrs267606958
Max Magnitude0
ClinVar
Risk rs267606958(T;T)
Alt rs267606958(T;T)
Reference rs267606958(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.46023329C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006899.3,