rs72556277
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;G) | 3 | Carrier of an ornithine carbamoyltransferase mutation |
(G;G) | 8.2 | Ornithine Transcarbamylase Deficiency |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 38401393 |
Gene | OTC |
is a | snp |
is | mentioned by |
dbSNP | rs72556277 |
dbSNP (classic) | rs72556277 |
ClinGen | rs72556277 |
ebi | rs72556277 |
HLI | rs72556277 |
Exac | rs72556277 |
Gnomad | rs72556277 |
Varsome | rs72556277 |
LitVar | rs72556277 |
Map | rs72556277 |
PheGenI | rs72556277 |
Biobank | rs72556277 |
1000 genomes | rs72556277 |
hgdp | rs72556277 |
ensembl | rs72556277 |
geneview | rs72556277 |
scholar | rs72556277 |
rs72556277 | |
pharmgkb | rs72556277 |
gwascentral | rs72556277 |
openSNP | rs72556277 |
23andMe | rs72556277 |
SNPshot | rs72556277 |
SNPdbe | rs72556277 |
MSV3d | rs72556277 |
GWAS Ctlg | rs72556277 |
Max Magnitude | 8.2 |
ClinVar | |
---|---|
Risk | Rs72556277(G;G) |
Alt | Rs72556277(G;G) |
Reference | Rs72556277(C;C) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | OTC |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000023.10:g.38260646C>G |
CLNSRC | ClinVar |
CLNACC | RCV000083467.1, |