rs72558483
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs72558483(G;T) |
Make rs72558483(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 38412000 |
Gene | OTC |
is a | snp |
is | mentioned by |
dbSNP | rs72558483 |
dbSNP (classic) | rs72558483 |
ClinGen | rs72558483 |
ebi | rs72558483 |
HLI | rs72558483 |
Exac | rs72558483 |
Gnomad | rs72558483 |
Varsome | rs72558483 |
LitVar | rs72558483 |
Map | rs72558483 |
PheGenI | rs72558483 |
Biobank | rs72558483 |
1000 genomes | rs72558483 |
hgdp | rs72558483 |
ensembl | rs72558483 |
geneview | rs72558483 |
scholar | rs72558483 |
rs72558483 | |
pharmgkb | rs72558483 |
gwascentral | rs72558483 |
openSNP | rs72558483 |
23andMe | rs72558483 |
SNPshot | rs72558483 |
SNPdbe | rs72558483 |
MSV3d | rs72558483 |
GWAS Ctlg | rs72558483 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs72558483(T;T) |
Alt | rs72558483(T;T) |
Reference | Rs72558483(G;G) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | OTC |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000023.10:g.38271253G>T |
CLNSRC | ClinVar |
CLNACC | RCV000083313.1, |