rs41270025
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs41270025(G;T) |
Make rs41270025(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 161168463 |
Gene | PPOX |
is a | snp |
is | mentioned by |
dbSNP | rs41270025 |
dbSNP (classic) | rs41270025 |
ClinGen | rs41270025 |
ebi | rs41270025 |
HLI | rs41270025 |
Exac | rs41270025 |
Gnomad | rs41270025 |
Varsome | rs41270025 |
LitVar | rs41270025 |
Map | rs41270025 |
PheGenI | rs41270025 |
Biobank | rs41270025 |
1000 genomes | rs41270025 |
hgdp | rs41270025 |
ensembl | rs41270025 |
geneview | rs41270025 |
scholar | rs41270025 |
rs41270025 | |
pharmgkb | rs41270025 |
gwascentral | rs41270025 |
openSNP | rs41270025 |
23andMe | rs41270025 |
SNPshot | rs41270025 |
SNPdbe | rs41270025 |
MSV3d | rs41270025 |
GWAS Ctlg | rs41270025 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs41270025(A;A) rs41270025(T;T) |
Alt | rs41270025(A;A) rs41270025(T;T) |
Reference | Rs41270025(G;G) |
Significance | Pathogenic |
Disease | Variegate porphyria not provided |
Variation | info |
Gene | PPOX |
CLNDBN | Variegate porphyria not provided |
Reversed | 0 |
HGVS | NC_000001.10:g.161138253G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000009234.4, RCV000492944.1, |