rs780977054

Orientation

plus

Stabilized

plus

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

Make rs780977054(A;G)

Make rs780977054(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

47944614

Gene

PNPO

is a	snp
is	mentioned by
dbSNP	rs780977054
dbSNP (classic)	rs780977054
ClinGen	rs780977054
ebi	rs780977054
HLI	rs780977054
Exac	rs780977054
Gnomad	rs780977054
Varsome	rs780977054
LitVar	rs780977054
Map	rs780977054
PheGenI	rs780977054
Biobank	rs780977054
1000 genomes	rs780977054
hgdp	rs780977054
ensembl	rs780977054
geneview	rs780977054
scholar	rs780977054
google	rs780977054
pharmgkb	rs780977054
gwascentral	rs780977054
openSNP	rs780977054
23andMe	rs780977054
SNPshot	rs780977054
SNPdbe	rs780977054
MSV3d	rs780977054
GWAS Ctlg	rs780977054

Max Magnitude

0

ClinVar
Risk	rs780977054(G;G)
Alt	rs780977054(G;G)
Reference	Rs780977054(A;A)
Significance	Probable-Pathogenic
Disease	Pyridoxal 5'-phosphate-dependent epilepsy
Variation	info
Gene	PNPO
CLNDBN	Pyridoxal 5'-phosphate-dependent epilepsy
Reversed	0
HGVS	NC_000017.10:g.46021980A>G
CLNSRC
CLNACC	RCV000468236.1,