rs104894631

Orientation

plus

Stabilized

plus

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

Make rs104894631(C;C)

Make rs104894631(C;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

47946780

Gene

PNPO

is a	snp
is	mentioned by
dbSNP	rs104894631
dbSNP (classic)	rs104894631
ClinGen	rs104894631
ebi	rs104894631
HLI	rs104894631
Exac	rs104894631
Gnomad	rs104894631
Varsome	rs104894631
LitVar	rs104894631
Map	rs104894631
PheGenI	rs104894631
Biobank	rs104894631
1000 genomes	rs104894631
hgdp	rs104894631
ensembl	rs104894631
geneview	rs104894631
scholar	rs104894631
google	rs104894631
pharmgkb	rs104894631
gwascentral	rs104894631
openSNP	rs104894631
23andMe	rs104894631
SNPshot	rs104894631
SNPdbe	rs104894631
MSV3d	rs104894631
GWAS Ctlg	rs104894631

Max Magnitude

0

OMIM	603287
Desc
Variant	0003
Related	also

ClinVar
Risk	rs104894631(C;C)
Alt	rs104894631(C;C)
Reference	Rs104894631(T;T)
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.46024146T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006898.3,