rs143823335
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs143823335(A;A) |
Make rs143823335(A;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 1 |
Position | 45014012 |
Gene | UROD |
is a | snp |
is | mentioned by |
dbSNP | rs143823335 |
dbSNP (classic) | rs143823335 |
ClinGen | rs143823335 |
ebi | rs143823335 |
HLI | rs143823335 |
Exac | rs143823335 |
Gnomad | rs143823335 |
Varsome | rs143823335 |
LitVar | rs143823335 |
Map | rs143823335 |
PheGenI | rs143823335 |
Biobank | rs143823335 |
1000 genomes | rs143823335 |
hgdp | rs143823335 |
ensembl | rs143823335 |
geneview | rs143823335 |
scholar | rs143823335 |
rs143823335 | |
pharmgkb | rs143823335 |
gwascentral | rs143823335 |
openSNP | rs143823335 |
23andMe | rs143823335 |
SNPshot | rs143823335 |
SNPdbe | rs143823335 |
MSV3d | rs143823335 |
GWAS Ctlg | rs143823335 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs143823335(A;A) rs143823335(C;C) |
Alt | rs143823335(A;A) rs143823335(C;C) |
Reference | Rs143823335(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.45479684G>C |
CLNSRC | |
CLNACC | RCV000240668.1, |