rs67283833
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs67283833(A;T) |
Make rs67283833(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 38408794 |
Gene | OTC |
is a | snp |
is | mentioned by |
dbSNP | rs67283833 |
dbSNP (classic) | rs67283833 |
ClinGen | rs67283833 |
ebi | rs67283833 |
HLI | rs67283833 |
Exac | rs67283833 |
Gnomad | rs67283833 |
Varsome | rs67283833 |
LitVar | rs67283833 |
Map | rs67283833 |
PheGenI | rs67283833 |
Biobank | rs67283833 |
1000 genomes | rs67283833 |
hgdp | rs67283833 |
ensembl | rs67283833 |
geneview | rs67283833 |
scholar | rs67283833 |
rs67283833 | |
pharmgkb | rs67283833 |
gwascentral | rs67283833 |
openSNP | rs67283833 |
23andMe | rs67283833 |
SNPshot | rs67283833 |
SNPdbe | rs67283833 |
MSV3d | rs67283833 |
GWAS Ctlg | rs67283833 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs67283833(G;G) rs67283833(T;T) |
Alt | rs67283833(G;G) rs67283833(T;T) |
Reference | Rs67283833(A;A) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | OTC |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000023.10:g.38268047A>G; NC_000023.10:g.38268047A>T |
CLNSRC | ClinVar |
CLNACC | RCV000083540.1, RCV000083541.1, |
[PMID 16786505] Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene.