rs66693137
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs66693137(A;A) |
Make rs66693137(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 38367430 |
Gene | OTC |
is a | snp |
is | mentioned by |
dbSNP | rs66693137 |
dbSNP (classic) | rs66693137 |
ClinGen | rs66693137 |
ebi | rs66693137 |
HLI | rs66693137 |
Exac | rs66693137 |
Gnomad | rs66693137 |
Varsome | rs66693137 |
LitVar | rs66693137 |
Map | rs66693137 |
PheGenI | rs66693137 |
Biobank | rs66693137 |
1000 genomes | rs66693137 |
hgdp | rs66693137 |
ensembl | rs66693137 |
geneview | rs66693137 |
scholar | rs66693137 |
rs66693137 | |
pharmgkb | rs66693137 |
gwascentral | rs66693137 |
openSNP | rs66693137 |
23andMe | rs66693137 |
SNPshot | rs66693137 |
SNPdbe | rs66693137 |
MSV3d | rs66693137 |
GWAS Ctlg | rs66693137 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs66693137(A;A) rs66693137(T;T) |
Alt | rs66693137(A;A) rs66693137(T;T) |
Reference | Rs66693137(G;G) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | OTC |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000023.10:g.38226683G>A; NC_000023.10:g.38226683G>T |
CLNSRC | ClinVar |
CLNACC | RCV000083363.1, RCV000083364.1, |
[PMID 8566955] Identification of four novel splice site mutations in the ornithine transcarbamylase gene.
[PMID 12175783] Ornithine transcarbamylase deficiency: a novel splice site mutation in a family with meiotic recombination and a new useful SNP for diagnosis.