rs774710082

Orientation

plus

Stabilized

plus

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

Make rs774710082(A;A)

Make rs774710082(A;G)

Reference

GRCh38.p2 38.2/147

Chromosome

17

Position

47945558

Gene

PNPO

is a	snp
is	mentioned by
dbSNP	rs774710082
dbSNP (classic)	rs774710082
ClinGen	rs774710082
ebi	rs774710082
HLI	rs774710082
Exac	rs774710082
Gnomad	rs774710082
Varsome	rs774710082
LitVar	rs774710082
Map	rs774710082
PheGenI	rs774710082
Biobank	rs774710082
1000 genomes	rs774710082
hgdp	rs774710082
ensembl	rs774710082
geneview	rs774710082
scholar	rs774710082
google	rs774710082
pharmgkb	rs774710082
gwascentral	rs774710082
openSNP	rs774710082
23andMe	rs774710082
SNPshot	rs774710082
SNPdbe	rs774710082
MSV3d	rs774710082
GWAS Ctlg	rs774710082

Max Magnitude

0

ClinVar
Risk	rs774710082(A;A)
Alt	rs774710082(A;A)
Reference	Rs774710082(G;G)
Significance	Pathogenic
Disease	Pyridoxal 5'-phosphate-dependent epilepsy
Variation	info
Gene	PNPO
CLNDBN	Pyridoxal 5'-phosphate-dependent epilepsy
Reversed	0
HGVS	NC_000017.10:g.46022924G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006897.3,