rs1800328
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs1800328(A;C) |
Make rs1800328(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 38408967 |
Gene | OTC |
is a | snp |
is | mentioned by |
dbSNP | rs1800328 |
dbSNP (classic) | rs1800328 |
ClinGen | rs1800328 |
ebi | rs1800328 |
HLI | rs1800328 |
Exac | rs1800328 |
Gnomad | rs1800328 |
Varsome | rs1800328 |
LitVar | rs1800328 |
Map | rs1800328 |
PheGenI | rs1800328 |
Biobank | rs1800328 |
1000 genomes | rs1800328 |
hgdp | rs1800328 |
ensembl | rs1800328 |
geneview | rs1800328 |
scholar | rs1800328 |
rs1800328 | |
pharmgkb | rs1800328 |
gwascentral | rs1800328 |
openSNP | rs1800328 |
23andMe | rs1800328 |
SNPshot | rs1800328 |
SNPdbe | rs1800328 |
MSV3d | rs1800328 |
GWAS Ctlg | rs1800328 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1800328(C;C) rs1800328(G;G) |
Alt | rs1800328(C;C) rs1800328(G;G) |
Reference | Rs1800328(A;A) |
Significance | Other |
Disease | not provided not specified Ornithine carbamoyltransferase deficiency |
Variation | info |
Gene | OTC |
CLNDBN | not provided not specified Ornithine carbamoyltransferase deficiency |
Reversed | 0 |
HGVS | NC_000023.10:g.38268220A>C; NC_000023.10:g.38268220A>G |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000083583.1, RCV000117884.4, RCV000335039.1, |