rs67651903
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs67651903(A;A) |
Make rs67651903(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 38381360 |
Gene | OTC |
is a | snp |
is | mentioned by |
dbSNP | rs67651903 |
dbSNP (classic) | rs67651903 |
ClinGen | rs67651903 |
ebi | rs67651903 |
HLI | rs67651903 |
Exac | rs67651903 |
Gnomad | rs67651903 |
Varsome | rs67651903 |
LitVar | rs67651903 |
Map | rs67651903 |
PheGenI | rs67651903 |
Biobank | rs67651903 |
1000 genomes | rs67651903 |
hgdp | rs67651903 |
ensembl | rs67651903 |
geneview | rs67651903 |
scholar | rs67651903 |
rs67651903 | |
pharmgkb | rs67651903 |
gwascentral | rs67651903 |
openSNP | rs67651903 |
23andMe | rs67651903 |
SNPshot | rs67651903 |
SNPdbe | rs67651903 |
MSV3d | rs67651903 |
GWAS Ctlg | rs67651903 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs67651903(A;A) rs67651903(T;T) |
Alt | rs67651903(A;A) rs67651903(T;T) |
Reference | Rs67651903(G;G) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | OTC |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000023.10:g.38240613G>A; NC_000023.10:g.38240613G>T |
CLNSRC | ClinVar |
CLNACC | RCV000083401.1, RCV000083402.1, |
[PMID 12136059] Distinctly abnormal brain metabolism in late-onset ornithine transcarbamylase deficiency.
[PMID 16786505] Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene.