rs773450573

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs773450573(A;A)

Make rs773450573(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

17

Position

47946682

Gene

PNPO

is a	snp
is	mentioned by
dbSNP	rs773450573
dbSNP (classic)	rs773450573
ClinGen	rs773450573
ebi	rs773450573
HLI	rs773450573
Exac	rs773450573
Gnomad	rs773450573
Varsome	rs773450573
LitVar	rs773450573
Map	rs773450573
PheGenI	rs773450573
Biobank	rs773450573
1000 genomes	rs773450573
hgdp	rs773450573
ensembl	rs773450573
geneview	rs773450573
scholar	rs773450573
google	rs773450573
pharmgkb	rs773450573
gwascentral	rs773450573
openSNP	rs773450573
23andMe	rs773450573
SNPshot	rs773450573
SNPdbe	rs773450573
MSV3d	rs773450573
GWAS Ctlg	rs773450573

Max Magnitude

0

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	RCV000188500.3, RCV000208780.1,