rs796052872
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CCTG;CCTG) | 0 | common in clinvar |
(CTGC;CTGC) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs796052872(-;-) |
Make rs796052872(-;CCTG) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 47945891 |
Gene | PNPO |
is a | snp |
is | mentioned by |
dbSNP | rs796052872 |
dbSNP (classic) | rs796052872 |
ClinGen | rs796052872 |
ebi | rs796052872 |
HLI | rs796052872 |
Exac | rs796052872 |
Gnomad | rs796052872 |
Varsome | rs796052872 |
LitVar | rs796052872 |
Map | rs796052872 |
PheGenI | rs796052872 |
Biobank | rs796052872 |
1000 genomes | rs796052872 |
hgdp | rs796052872 |
ensembl | rs796052872 |
geneview | rs796052872 |
scholar | rs796052872 |
rs796052872 | |
pharmgkb | rs796052872 |
gwascentral | rs796052872 |
openSNP | rs796052872 |
23andMe | rs796052872 |
SNPshot | rs796052872 |
SNPdbe | rs796052872 |
MSV3d | rs796052872 |
GWAS Ctlg | rs796052872 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796052872(-;-) Rs796052872(CTGC;CTGC) |
Alt | rs796052872(-;-) Rs796052872(CTGC;CTGC) |
Reference | Rs796052872(CCTG;CCTG) |
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.46023257_46023260delCCTG |
CLNSRC | |
CLNACC | RCV000188508.1, RCV000194659.1, |