rs72554323
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs72554323(C;T) |
Make rs72554323(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 38367392 |
Gene | OTC |
is a | snp |
is | mentioned by |
dbSNP | rs72554323 |
dbSNP (classic) | rs72554323 |
ClinGen | rs72554323 |
ebi | rs72554323 |
HLI | rs72554323 |
Exac | rs72554323 |
Gnomad | rs72554323 |
Varsome | rs72554323 |
LitVar | rs72554323 |
Map | rs72554323 |
PheGenI | rs72554323 |
Biobank | rs72554323 |
1000 genomes | rs72554323 |
hgdp | rs72554323 |
ensembl | rs72554323 |
geneview | rs72554323 |
scholar | rs72554323 |
rs72554323 | |
pharmgkb | rs72554323 |
gwascentral | rs72554323 |
openSNP | rs72554323 |
23andMe | rs72554323 |
SNPshot | rs72554323 |
SNPdbe | rs72554323 |
MSV3d | rs72554323 |
GWAS Ctlg | rs72554323 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs72554323(T;T) |
Alt | rs72554323(T;T) |
Reference | Rs72554323(C;C) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | OTC |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000023.10:g.38226645C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000083357.1, |