rs72558434
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CTAGAATGGTACCAAG;CTAGAATGGTACCAAG) | 0 | common in clinvar |
(GCTAGAATGGTACCAA;GCTAGAATGGTACCAA) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs72558434(-;-) |
Make rs72558434(-;CTAGAATGGTAC) |
Make rs72558434(CTAGAATGGTAC;CTAGAATGGTAC) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 38408872 |
Gene | OTC |
is a | snp |
is | mentioned by |
dbSNP | rs72558434 |
dbSNP (classic) | rs72558434 |
ClinGen | rs72558434 |
ebi | rs72558434 |
HLI | rs72558434 |
Exac | rs72558434 |
Gnomad | rs72558434 |
Varsome | rs72558434 |
LitVar | rs72558434 |
Map | rs72558434 |
PheGenI | rs72558434 |
Biobank | rs72558434 |
1000 genomes | rs72558434 |
hgdp | rs72558434 |
ensembl | rs72558434 |
geneview | rs72558434 |
scholar | rs72558434 |
rs72558434 | |
pharmgkb | rs72558434 |
gwascentral | rs72558434 |
openSNP | rs72558434 |
23andMe | rs72558434 |
SNPshot | rs72558434 |
SNPdbe | rs72558434 |
MSV3d | rs72558434 |
GWAS Ctlg | rs72558434 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs72558434(-;-) |
Alt | rs72558434(-;-) |
Reference | Rs72558434(GCTAGAATGGTACCAA;GCTAGAATGGTACCAA) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | OTC |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000023.10:g.38268125_38268140del16 |
CLNSRC | ClinVar |
CLNACC | RCV000083550.1, |