rs72558448
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs72558448(A;C) |
Make rs72558448(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 38408957 |
Gene | OTC |
is a | snp |
is | mentioned by |
dbSNP | rs72558448 |
dbSNP (classic) | rs72558448 |
ClinGen | rs72558448 |
ebi | rs72558448 |
HLI | rs72558448 |
Exac | rs72558448 |
Gnomad | rs72558448 |
Varsome | rs72558448 |
LitVar | rs72558448 |
Map | rs72558448 |
PheGenI | rs72558448 |
Biobank | rs72558448 |
1000 genomes | rs72558448 |
hgdp | rs72558448 |
ensembl | rs72558448 |
geneview | rs72558448 |
scholar | rs72558448 |
rs72558448 | |
pharmgkb | rs72558448 |
gwascentral | rs72558448 |
openSNP | rs72558448 |
23andMe | rs72558448 |
SNPshot | rs72558448 |
SNPdbe | rs72558448 |
MSV3d | rs72558448 |
GWAS Ctlg | rs72558448 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs72558448(C;C) |
Alt | rs72558448(C;C) |
Reference | Rs72558448(A;A) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | OTC |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000023.10:g.38268210A>C |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000083579.1, |