rs28936677
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 3.5 | Variegate porphyria |
(C;T) | 3 | Variegate porphyria carrier |
(T;T) | 0 | common in clinvar |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 161166882 |
Gene | PPOX |
is a | snp |
is | mentioned by |
dbSNP | rs28936677 |
dbSNP (classic) | rs28936677 |
ClinGen | rs28936677 |
ebi | rs28936677 |
HLI | rs28936677 |
Exac | rs28936677 |
Gnomad | rs28936677 |
Varsome | rs28936677 |
LitVar | rs28936677 |
Map | rs28936677 |
PheGenI | rs28936677 |
Biobank | rs28936677 |
1000 genomes | rs28936677 |
hgdp | rs28936677 |
ensembl | rs28936677 |
geneview | rs28936677 |
scholar | rs28936677 |
rs28936677 | |
pharmgkb | rs28936677 |
gwascentral | rs28936677 |
openSNP | rs28936677 |
23andMe | rs28936677 |
SNPshot | rs28936677 |
SNPdbe | rs28936677 |
MSV3d | rs28936677 |
GWAS Ctlg | rs28936677 |
Max Magnitude | 3.5 |
ClinVar | |
---|---|
Risk | Rs28936677(C;C) |
Alt | Rs28936677(C;C) |
Reference | Rs28936677(T;T) |
Significance | Pathogenic |
Disease | Variegate porphyria Variegate porphyria |
Variation | info |
Gene | PPOX |
CLNDBN | Variegate porphyria, homozygous Variegate porphyria |
Reversed | 0 |
HGVS | NC_000001.10:g.161136672T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000009240.4, RCV000033939.2, |