rs550423482
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs550423482(A;A) |
Make rs550423482(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 47946670 |
Gene | PNPO |
is a | snp |
is | mentioned by |
dbSNP | rs550423482 |
dbSNP (classic) | rs550423482 |
ClinGen | rs550423482 |
ebi | rs550423482 |
HLI | rs550423482 |
Exac | rs550423482 |
Gnomad | rs550423482 |
Varsome | rs550423482 |
LitVar | rs550423482 |
Map | rs550423482 |
PheGenI | rs550423482 |
Biobank | rs550423482 |
1000 genomes | rs550423482 |
hgdp | rs550423482 |
ensembl | rs550423482 |
geneview | rs550423482 |
scholar | rs550423482 |
rs550423482 | |
pharmgkb | rs550423482 |
gwascentral | rs550423482 |
openSNP | rs550423482 |
23andMe | rs550423482 |
SNPshot | rs550423482 |
SNPdbe | rs550423482 |
MSV3d | rs550423482 |
GWAS Ctlg | rs550423482 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs550423482(A;A) rs550423482(T;T) |
Alt | rs550423482(A;A) rs550423482(T;T) |
Reference | Rs550423482(G;G) |
Significance | Pathogenic |
Disease | Pyridoxal 5'-phosphate-dependent epilepsy Growth delay Intrauterine growth retardation Seizures not provided |
Variation | info |
Gene | PNPO |
CLNDBN | Pyridoxal 5'-phosphate-dependent epilepsy Growth delay Intrauterine growth retardation Seizures not provided |
Reversed | 0 |
HGVS | NC_000017.10:g.46024036G>A; NC_000017.10:g.46024036G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000208779.1, RCV000414812.1, RCV000188499.2, |