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rs796052872

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CCTG;CCTG) 0 common in clinvar
(CTGC;CTGC) 0 common in clinvar
Make rs796052872(-;-)
Make rs796052872(-;CCTG)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position47945891
GenePNPO
is asnp
is mentioned by
dbSNPrs796052872
dbSNP (old)rs796052872
ClinGenrs796052872
ebirs796052872
HLIrs796052872
Exacrs796052872
Varsomers796052872
Maprs796052872
PheGenIrs796052872
Biobankrs796052872
1000 genomesrs796052872
hgdprs796052872
ensemblrs796052872
gopubmedrs796052872
geneviewrs796052872
scholarrs796052872
googlers796052872
pharmgkbrs796052872
gwascentralrs796052872
openSNPrs796052872
23andMers796052872
23andMe allrs796052872
SNP Nexus

SNPshotrs796052872
SNPdbers796052872
MSV3drs796052872
GWAS Ctlgrs796052872
Max Magnitude0
ClinVar
Risk rs796052872(-;-) Rs796052872(CTGC;CTGC)
Alt rs796052872(-;-) Rs796052872(CTGC;CTGC)
Reference Rs796052872(CCTG;CCTG)
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.46023257_46023260delCCTG
CLNSRC
CLNACC RCV000188508.1, RCV000194659.1,