rs796051859
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs796051859(-;G) |
Make rs796051859(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 10 |
Position | 125798142 |
Gene | UROS |
is a | snp |
is | mentioned by |
dbSNP | rs796051859 |
dbSNP (classic) | rs796051859 |
ClinGen | rs796051859 |
ebi | rs796051859 |
HLI | rs796051859 |
Exac | rs796051859 |
Gnomad | rs796051859 |
Varsome | rs796051859 |
LitVar | rs796051859 |
Map | rs796051859 |
PheGenI | rs796051859 |
Biobank | rs796051859 |
1000 genomes | rs796051859 |
hgdp | rs796051859 |
ensembl | rs796051859 |
geneview | rs796051859 |
scholar | rs796051859 |
rs796051859 | |
pharmgkb | rs796051859 |
gwascentral | rs796051859 |
openSNP | rs796051859 |
23andMe | rs796051859 |
SNPshot | rs796051859 |
SNPdbe | rs796051859 |
MSV3d | rs796051859 |
GWAS Ctlg | rs796051859 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796051859(G;G) |
Alt | rs796051859(G;G) |
Reference | Rs796051859(-;-) |
Significance | Pathogenic |
Disease | Congenital erythropoietic porphyria |
Variation | info |
Gene | UROS |
CLNDBN | Congenital erythropoietic porphyria |
Reversed | 1 |
HGVS | NC_000010.10:g.127486712dupC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000003966.3, |