rs786204784
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs786204784(-;-) |
Make rs786204784(-;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 161167211 |
Gene | PPOX |
is a | snp |
is | mentioned by |
dbSNP | rs786204784 |
dbSNP (classic) | rs786204784 |
ClinGen | rs786204784 |
ebi | rs786204784 |
HLI | rs786204784 |
Exac | rs786204784 |
Gnomad | rs786204784 |
Varsome | rs786204784 |
LitVar | rs786204784 |
Map | rs786204784 |
PheGenI | rs786204784 |
Biobank | rs786204784 |
1000 genomes | rs786204784 |
hgdp | rs786204784 |
ensembl | rs786204784 |
geneview | rs786204784 |
scholar | rs786204784 |
rs786204784 | |
pharmgkb | rs786204784 |
gwascentral | rs786204784 |
openSNP | rs786204784 |
23andMe | rs786204784 |
SNPshot | rs786204784 |
SNPdbe | rs786204784 |
MSV3d | rs786204784 |
GWAS Ctlg | rs786204784 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786204784(-;-) |
Alt | rs786204784(-;-) |
Reference | Rs786204784(C;C) |
Significance | Pathogenic |
Disease | Variegate porphyria |
Variation | info |
Gene | PPOX |
CLNDBN | Variegate porphyria |
Reversed | 0 |
HGVS | NC_000001.10:g.161137001delC |
CLNSRC | |
CLNACC | RCV000169672.1, |