rs863225061
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(ATTTTCGGTAAGTGATGGTCAGAG;ATTTTCGGTAAGTGATGGTCAGAG) | 0 | common in clinvar |
Make rs863225061(-;-) |
Make rs863225061(-;TTTTCGGTAAGTGATGGTCAGAGA) |
Make rs863225061(TTTTCGGTAAGTGATGGTCAGAGA;TTTTCGGTAAGTGATGGTCAGAGA) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 38352768 |
Gene | OTC |
is a | snp |
is | mentioned by |
dbSNP | rs863225061 |
dbSNP (classic) | rs863225061 |
ClinGen | rs863225061 |
ebi | rs863225061 |
HLI | rs863225061 |
Exac | rs863225061 |
Gnomad | rs863225061 |
Varsome | rs863225061 |
LitVar | rs863225061 |
Map | rs863225061 |
PheGenI | rs863225061 |
Biobank | rs863225061 |
1000 genomes | rs863225061 |
hgdp | rs863225061 |
ensembl | rs863225061 |
geneview | rs863225061 |
scholar | rs863225061 |
rs863225061 | |
pharmgkb | rs863225061 |
gwascentral | rs863225061 |
openSNP | rs863225061 |
23andMe | rs863225061 |
SNPshot | rs863225061 |
SNPdbe | rs863225061 |
MSV3d | rs863225061 |
GWAS Ctlg | rs863225061 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863225061(-;-) |
Alt | rs863225061(-;-) |
Reference | Rs863225061(ATTTTCGGTAAGTGATGGTCAGAG;ATTTTCGGTAAGTGATGGTCAGAG) |
Significance | Pathogenic |
Disease | Ornithine carbamoyltransferase deficiency |
Variation | info |
Gene | OTC |
CLNDBN | Ornithine carbamoyltransferase deficiency |
Reversed | 0 |
HGVS | NC_000023.10:g.38212021_38212044del24 |
CLNSRC | |
CLNACC | RCV000201257.1, |