rs67330615
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs67330615(A;A) |
Make rs67330615(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 38408915 |
Gene | OTC |
is a | snp |
is | mentioned by |
dbSNP | rs67330615 |
dbSNP (classic) | rs67330615 |
ClinGen | rs67330615 |
ebi | rs67330615 |
HLI | rs67330615 |
Exac | rs67330615 |
Gnomad | rs67330615 |
Varsome | rs67330615 |
LitVar | rs67330615 |
Map | rs67330615 |
PheGenI | rs67330615 |
Biobank | rs67330615 |
1000 genomes | rs67330615 |
hgdp | rs67330615 |
ensembl | rs67330615 |
geneview | rs67330615 |
scholar | rs67330615 |
rs67330615 | |
pharmgkb | rs67330615 |
gwascentral | rs67330615 |
openSNP | rs67330615 |
23andMe | rs67330615 |
SNPshot | rs67330615 |
SNPdbe | rs67330615 |
MSV3d | rs67330615 |
GWAS Ctlg | rs67330615 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs67330615(A;A) rs67330615(C;C) |
Alt | rs67330615(A;A) rs67330615(C;C) |
Reference | Rs67330615(G;G) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | OTC |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000023.10:g.38268168G>A; NC_000023.10:g.38268168G>C |
CLNSRC | ClinVar |
CLNACC | RCV000083555.1, RCV000083556.1, |
[PMID 16786505] Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene.