rs17679445

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common on affy axiom data

Make rs17679445(A;A)

Make rs17679445(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

47944699

Gene

PNPO

is a	snp
is	mentioned by
dbSNP	rs17679445
dbSNP (classic)	rs17679445
ClinGen	rs17679445
ebi	rs17679445
HLI	rs17679445
Exac	rs17679445
Gnomad	rs17679445
Varsome	rs17679445
LitVar	rs17679445
Map	rs17679445
PheGenI	rs17679445
Biobank	rs17679445
1000 genomes	rs17679445
hgdp	rs17679445
ensembl	rs17679445
geneview	rs17679445
scholar	rs17679445
google	rs17679445
pharmgkb	rs17679445
gwascentral	rs17679445
openSNP	rs17679445
23andMe	rs17679445
SNPshot	rs17679445
SNPdbe	rs17679445
MSV3d	rs17679445
GWAS Ctlg	rs17679445

GMAF

0.03444

Max Magnitude

0

?	(A;A) (A;G) (G;G)	28

Also known as PNPO Arg116Gln.

ClinVar
Risk	rs17679445(A;A)
Alt	rs17679445(A;A)
Reference	Rs17679445(G;G)
Significance	Other
Disease	not specified Pyridoxal 5'-phosphate-dependent epilepsy
Variation	info
Gene	PNPO
CLNDBN	not specified Pyridoxal 5'-phosphate-dependent epilepsy
Reversed	0
HGVS	NC_000017.10:g.46022065G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000118002.4, RCV000357367.1,