rs796052872

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(CCTG;CCTG)	0	common in clinvar
(CTGC;CTGC)	0	common in clinvar
(I;I)	0	common genotype

Make rs796052872(-;-)

Make rs796052872(-;CCTG)

Reference

GRCh38.p2 38.2/146

Chromosome

17

Position

47945891

Gene

PNPO

is a	snp
is	mentioned by
dbSNP	rs796052872
dbSNP (classic)	rs796052872
ClinGen	rs796052872
ebi	rs796052872
HLI	rs796052872
Exac	rs796052872
Gnomad	rs796052872
Varsome	rs796052872
LitVar	rs796052872
Map	rs796052872
PheGenI	rs796052872
Biobank	rs796052872
1000 genomes	rs796052872
hgdp	rs796052872
ensembl	rs796052872
geneview	rs796052872
scholar	rs796052872
google	rs796052872
pharmgkb	rs796052872
gwascentral	rs796052872
openSNP	rs796052872
23andMe	rs796052872
SNPshot	rs796052872
SNPdbe	rs796052872
MSV3d	rs796052872
GWAS Ctlg	rs796052872

Max Magnitude

0

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,