rs67284661
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs67284661(C;C) |
Make rs67284661(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 38403654 |
Gene | OTC |
is a | snp |
is | mentioned by |
dbSNP | rs67284661 |
dbSNP (classic) | rs67284661 |
ClinGen | rs67284661 |
ebi | rs67284661 |
HLI | rs67284661 |
Exac | rs67284661 |
Gnomad | rs67284661 |
Varsome | rs67284661 |
LitVar | rs67284661 |
Map | rs67284661 |
PheGenI | rs67284661 |
Biobank | rs67284661 |
1000 genomes | rs67284661 |
hgdp | rs67284661 |
ensembl | rs67284661 |
geneview | rs67284661 |
scholar | rs67284661 |
rs67284661 | |
pharmgkb | rs67284661 |
gwascentral | rs67284661 |
openSNP | rs67284661 |
23andMe | rs67284661 |
SNPshot | rs67284661 |
SNPdbe | rs67284661 |
MSV3d | rs67284661 |
GWAS Ctlg | rs67284661 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs67284661(C;C) rs67284661(G;G) |
Alt | rs67284661(C;C) rs67284661(G;G) |
Reference | Rs67284661(T;T) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | OTC |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000023.10:g.38262907T>C; NC_000023.10:g.38262907T>G |
CLNSRC | ClinVar |
CLNACC | RCV000083494.1, RCV000083495.1, |
[PMID 16786505] Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene.