rs121918057
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121918057(G;T) |
Make rs121918057(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 45014803 |
Gene | UROD |
is a | snp |
is | mentioned by |
dbSNP | rs121918057 |
dbSNP (classic) | rs121918057 |
ClinGen | rs121918057 |
ebi | rs121918057 |
HLI | rs121918057 |
Exac | rs121918057 |
Gnomad | rs121918057 |
Varsome | rs121918057 |
LitVar | rs121918057 |
Map | rs121918057 |
PheGenI | rs121918057 |
Biobank | rs121918057 |
1000 genomes | rs121918057 |
hgdp | rs121918057 |
ensembl | rs121918057 |
geneview | rs121918057 |
scholar | rs121918057 |
rs121918057 | |
pharmgkb | rs121918057 |
gwascentral | rs121918057 |
openSNP | rs121918057 |
23andMe | rs121918057 |
SNPshot | rs121918057 |
SNPdbe | rs121918057 |
MSV3d | rs121918057 |
GWAS Ctlg | rs121918057 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121918057(A;A) rs121918057(T;T) |
Alt | rs121918057(A;A) rs121918057(T;T) |
Reference | Rs121918057(G;G) |
Significance | Pathogenic |
Disease | Hepatoerythropoietic porphyria Porphyria cutanea tarda Familial porphyria cutanea tarda |
Variation | info |
Gene | UROD |
CLNDBN | Hepatoerythropoietic porphyria Porphyria cutanea tarda Familial porphyria cutanea tarda |
Reversed | 0 |
HGVS | NC_000001.10:g.45480475G>A; NC_000001.10:g.45480475G>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000000083.2, RCV000024023.2, RCV000240661.1, RCV000000082.3, |