rs756210458
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs756210458(C;T) |
Make rs756210458(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 22 |
Position | 40354266 |
Gene | ADSL |
is a | snp |
is | mentioned by |
dbSNP | rs756210458 |
dbSNP (classic) | rs756210458 |
ClinGen | rs756210458 |
ebi | rs756210458 |
HLI | rs756210458 |
Exac | rs756210458 |
Gnomad | rs756210458 |
Varsome | rs756210458 |
LitVar | rs756210458 |
Map | rs756210458 |
PheGenI | rs756210458 |
Biobank | rs756210458 |
1000 genomes | rs756210458 |
hgdp | rs756210458 |
ensembl | rs756210458 |
geneview | rs756210458 |
scholar | rs756210458 |
rs756210458 | |
pharmgkb | rs756210458 |
gwascentral | rs756210458 |
openSNP | rs756210458 |
23andMe | rs756210458 |
SNPshot | rs756210458 |
SNPdbe | rs756210458 |
MSV3d | rs756210458 |
GWAS Ctlg | rs756210458 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs756210458(T;T) |
Alt | rs756210458(T;T) |
Reference | Rs756210458(C;C) |
Significance | Pathogenic |
Disease | not provided Difficulty standing Generalized myoclonic seizures Inability to walk Progressive neurologic deterioration Severe global developmental delay |
Variation | info |
Gene | ADSL |
CLNDBN | not provided Difficulty standing Generalized myoclonic seizures Inability to walk Progressive neurologic deterioration Severe global developmental delay |
Reversed | 0 |
HGVS | NC_000022.10:g.40750270C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000186711.1, RCV000415081.1, |