rs773450573
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs773450573(A;A) |
Make rs773450573(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 47946682 |
Gene | PNPO |
is a | snp |
is | mentioned by |
dbSNP | rs773450573 |
dbSNP (classic) | rs773450573 |
ClinGen | rs773450573 |
ebi | rs773450573 |
HLI | rs773450573 |
Exac | rs773450573 |
Gnomad | rs773450573 |
Varsome | rs773450573 |
LitVar | rs773450573 |
Map | rs773450573 |
PheGenI | rs773450573 |
Biobank | rs773450573 |
1000 genomes | rs773450573 |
hgdp | rs773450573 |
ensembl | rs773450573 |
geneview | rs773450573 |
scholar | rs773450573 |
rs773450573 | |
pharmgkb | rs773450573 |
gwascentral | rs773450573 |
openSNP | rs773450573 |
23andMe | rs773450573 |
SNPshot | rs773450573 |
SNPdbe | rs773450573 |
MSV3d | rs773450573 |
GWAS Ctlg | rs773450573 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs773450573(A;A) |
Alt | rs773450573(A;A) |
Reference | Rs773450573(G;G) |
Significance | Pathogenic |
Disease | not provided Pyridoxal 5'-phosphate-dependent epilepsy |
Variation | info |
Gene | PNPO |
CLNDBN | not provided Pyridoxal 5'-phosphate-dependent epilepsy |
Reversed | 0 |
HGVS | NC_000017.10:g.46024048G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000188500.3, RCV000208780.1, |