rs66677059
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs66677059(C;C) |
Make rs66677059(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 38367371 |
Gene | OTC |
is a | snp |
is | mentioned by |
dbSNP | rs66677059 |
dbSNP (classic) | rs66677059 |
ClinGen | rs66677059 |
ebi | rs66677059 |
HLI | rs66677059 |
Exac | rs66677059 |
Gnomad | rs66677059 |
Varsome | rs66677059 |
LitVar | rs66677059 |
Map | rs66677059 |
PheGenI | rs66677059 |
Biobank | rs66677059 |
1000 genomes | rs66677059 |
hgdp | rs66677059 |
ensembl | rs66677059 |
geneview | rs66677059 |
scholar | rs66677059 |
rs66677059 | |
pharmgkb | rs66677059 |
gwascentral | rs66677059 |
openSNP | rs66677059 |
23andMe | rs66677059 |
SNPshot | rs66677059 |
SNPdbe | rs66677059 |
MSV3d | rs66677059 |
GWAS Ctlg | rs66677059 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs66677059(C;C) rs66677059(G;G) |
Alt | rs66677059(C;C) rs66677059(G;G) |
Reference | Rs66677059(T;T) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | OTC |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000023.10:g.38226624T>C; NC_000023.10:g.38226624T>G |
CLNSRC | ClinVar |
CLNACC | RCV000083351.1, RCV000083352.1, |
[PMID 16786505] Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene.