rs121918062
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121918062(A;A) |
Make rs121918062(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 45015006 |
Gene | UROD |
is a | snp |
is | mentioned by |
dbSNP | rs121918062 |
dbSNP (classic) | rs121918062 |
ClinGen | rs121918062 |
ebi | rs121918062 |
HLI | rs121918062 |
Exac | rs121918062 |
Gnomad | rs121918062 |
Varsome | rs121918062 |
LitVar | rs121918062 |
Map | rs121918062 |
PheGenI | rs121918062 |
Biobank | rs121918062 |
1000 genomes | rs121918062 |
hgdp | rs121918062 |
ensembl | rs121918062 |
geneview | rs121918062 |
scholar | rs121918062 |
rs121918062 | |
pharmgkb | rs121918062 |
gwascentral | rs121918062 |
openSNP | rs121918062 |
23andMe | rs121918062 |
SNPshot | rs121918062 |
SNPdbe | rs121918062 |
MSV3d | rs121918062 |
GWAS Ctlg | rs121918062 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121918062(A;A) |
Alt | rs121918062(A;A) |
Reference | Rs121918062(G;G) |
Significance | Pathogenic |
Disease | Familial porphyria cutanea tarda |
Variation | info |
Gene | UROD |
CLNDBN | Familial porphyria cutanea tarda |
Reversed | 0 |
HGVS | NC_000001.10:g.45480678G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000090.3, |