rs267606958

Orientation

plus

Stabilized

plus

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

Make rs267606958(C;T)

Make rs267606958(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

47945963

Gene

PNPO

is a	snp
is	mentioned by
dbSNP	rs267606958
dbSNP (classic)	rs267606958
ClinGen	rs267606958
ebi	rs267606958
HLI	rs267606958
Exac	rs267606958
Gnomad	rs267606958
Varsome	rs267606958
LitVar	rs267606958
Map	rs267606958
PheGenI	rs267606958
Biobank	rs267606958
1000 genomes	rs267606958
hgdp	rs267606958
ensembl	rs267606958
geneview	rs267606958
scholar	rs267606958
google	rs267606958
pharmgkb	rs267606958
gwascentral	rs267606958
openSNP	rs267606958
23andMe	rs267606958
SNPshot	rs267606958
SNPdbe	rs267606958
MSV3d	rs267606958
GWAS Ctlg	rs267606958

Max Magnitude

0

ClinVar
Risk	rs267606958(T;T)
Alt	rs267606958(T;T)
Reference	Rs267606958(C;C)
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.46023329C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006899.3,