rs200305064
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs200305064(A;A) |
Make rs200305064(A;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 3 |
Position | 124738114 |
Gene | UMPS |
is a | snp |
is | mentioned by |
dbSNP | rs200305064 |
dbSNP (classic) | rs200305064 |
ClinGen | rs200305064 |
ebi | rs200305064 |
HLI | rs200305064 |
Exac | rs200305064 |
Gnomad | rs200305064 |
Varsome | rs200305064 |
LitVar | rs200305064 |
Map | rs200305064 |
PheGenI | rs200305064 |
Biobank | rs200305064 |
1000 genomes | rs200305064 |
hgdp | rs200305064 |
ensembl | rs200305064 |
geneview | rs200305064 |
scholar | rs200305064 |
rs200305064 | |
pharmgkb | rs200305064 |
gwascentral | rs200305064 |
openSNP | rs200305064 |
23andMe | rs200305064 |
SNPshot | rs200305064 |
SNPdbe | rs200305064 |
MSV3d | rs200305064 |
GWAS Ctlg | rs200305064 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs200305064(A;A) rs200305064(C;C) |
Alt | rs200305064(A;A) rs200305064(C;C) |
Reference | Rs200305064(T;T) |
Significance | Probable-Pathogenic |
Disease | Orotic aciduria not provided |
Variation | info |
Gene | UMPS |
CLNDBN | Orotic aciduria not provided |
Reversed | 0 |
HGVS | NC_000003.11:g.124456961T>A |
CLNSRC | |
CLNACC | RCV000271631.1, RCV000489675.1, |