rs67890094
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs67890094(G;T) |
Make rs67890094(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 38401351 |
Gene | OTC |
is a | snp |
is | mentioned by |
dbSNP | rs67890094 |
dbSNP (classic) | rs67890094 |
ClinGen | rs67890094 |
ebi | rs67890094 |
HLI | rs67890094 |
Exac | rs67890094 |
Gnomad | rs67890094 |
Varsome | rs67890094 |
LitVar | rs67890094 |
Map | rs67890094 |
PheGenI | rs67890094 |
Biobank | rs67890094 |
1000 genomes | rs67890094 |
hgdp | rs67890094 |
ensembl | rs67890094 |
geneview | rs67890094 |
scholar | rs67890094 |
rs67890094 | |
pharmgkb | rs67890094 |
gwascentral | rs67890094 |
openSNP | rs67890094 |
23andMe | rs67890094 |
SNPshot | rs67890094 |
SNPdbe | rs67890094 |
MSV3d | rs67890094 |
GWAS Ctlg | rs67890094 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs67890094(C;C) rs67890094(T;T) |
Alt | rs67890094(C;C) rs67890094(T;T) |
Reference | Rs67890094(G;G) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | OTC |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000023.10:g.38260604G>C; NC_000023.10:g.38260604G>T |
CLNSRC | ClinVar |
CLNACC | RCV000083447.1, RCV000083448.1, |
[PMID 11793468] Mutations and polymorphisms in the human ornithine transcarbamylase gene.
[PMID 16786505] Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene.