rs68033093
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs68033093(A;G) |
Make rs68033093(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 38401412 |
Gene | OTC |
is a | snp |
is | mentioned by |
dbSNP | rs68033093 |
dbSNP (classic) | rs68033093 |
ClinGen | rs68033093 |
ebi | rs68033093 |
HLI | rs68033093 |
Exac | rs68033093 |
Gnomad | rs68033093 |
Varsome | rs68033093 |
LitVar | rs68033093 |
Map | rs68033093 |
PheGenI | rs68033093 |
Biobank | rs68033093 |
1000 genomes | rs68033093 |
hgdp | rs68033093 |
ensembl | rs68033093 |
geneview | rs68033093 |
scholar | rs68033093 |
rs68033093 | |
pharmgkb | rs68033093 |
gwascentral | rs68033093 |
openSNP | rs68033093 |
23andMe | rs68033093 |
SNPshot | rs68033093 |
SNPdbe | rs68033093 |
MSV3d | rs68033093 |
GWAS Ctlg | rs68033093 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs68033093(G;G) rs68033093(T;T) |
Alt | rs68033093(G;G) rs68033093(T;T) |
Reference | Rs68033093(A;A) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | OTC |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000023.10:g.38260665A>G; NC_000023.10:g.38260665A>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000083472.1, RCV000083473.1, |
[PMID 11117428] Mutation detection in 65 families with a possible diagnosis of ornithine carbamoyltransferase deficiency including 14 novel mutations.
[PMID 9266388] Identification of 'private' mutations in patients with ornithine transcarbamylase deficiency.