rs774710082
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs774710082(A;A) |
Make rs774710082(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 17 |
Position | 47945558 |
Gene | PNPO |
is a | snp |
is | mentioned by |
dbSNP | rs774710082 |
dbSNP (classic) | rs774710082 |
ClinGen | rs774710082 |
ebi | rs774710082 |
HLI | rs774710082 |
Exac | rs774710082 |
Gnomad | rs774710082 |
Varsome | rs774710082 |
LitVar | rs774710082 |
Map | rs774710082 |
PheGenI | rs774710082 |
Biobank | rs774710082 |
1000 genomes | rs774710082 |
hgdp | rs774710082 |
ensembl | rs774710082 |
geneview | rs774710082 |
scholar | rs774710082 |
rs774710082 | |
pharmgkb | rs774710082 |
gwascentral | rs774710082 |
openSNP | rs774710082 |
23andMe | rs774710082 |
SNPshot | rs774710082 |
SNPdbe | rs774710082 |
MSV3d | rs774710082 |
GWAS Ctlg | rs774710082 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs774710082(A;A) |
Alt | rs774710082(A;A) |
Reference | Rs774710082(G;G) |
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.46022924G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006897.3, |