rs550423482

Orientation

plus

Stabilized

plus

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

Make rs550423482(A;A)

Make rs550423482(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

17

Position

47946670

Gene

PNPO

is a	snp
is	mentioned by
dbSNP	rs550423482
dbSNP (classic)	rs550423482
ClinGen	rs550423482
ebi	rs550423482
HLI	rs550423482
Exac	rs550423482
Gnomad	rs550423482
Varsome	rs550423482
LitVar	rs550423482
Map	rs550423482
PheGenI	rs550423482
Biobank	rs550423482
1000 genomes	rs550423482
hgdp	rs550423482
ensembl	rs550423482
geneview	rs550423482
scholar	rs550423482
google	rs550423482
pharmgkb	rs550423482
gwascentral	rs550423482
openSNP	rs550423482
23andMe	rs550423482
SNPshot	rs550423482
SNPdbe	rs550423482
MSV3d	rs550423482
GWAS Ctlg	rs550423482

Max Magnitude

0

ClinVar
Risk	rs550423482(A;A) rs550423482(T;T)
Alt	rs550423482(A;A) rs550423482(T;T)
Reference	Rs550423482(G;G)
Significance	Pathogenic
Disease	Pyridoxal 5'-phosphate-dependent epilepsy Growth delay Intrauterine growth retardation Seizures not provided
Variation	info
Gene	PNPO
CLNDBN	Pyridoxal 5'-phosphate-dependent epilepsy Growth delay Intrauterine growth retardation Seizures not provided
Reversed	0
HGVS	NC_000017.10:g.46024036G>A; NC_000017.10:g.46024036G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000208779.1, RCV000414812.1, RCV000188499.2,