rs202064195
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs202064195(C;T) |
Make rs202064195(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 22 |
Position | 40361578 |
Gene | ADSL |
is a | snp |
is | mentioned by |
dbSNP | rs202064195 |
dbSNP (classic) | rs202064195 |
ClinGen | rs202064195 |
ebi | rs202064195 |
HLI | rs202064195 |
Exac | rs202064195 |
Gnomad | rs202064195 |
Varsome | rs202064195 |
LitVar | rs202064195 |
Map | rs202064195 |
PheGenI | rs202064195 |
Biobank | rs202064195 |
1000 genomes | rs202064195 |
hgdp | rs202064195 |
ensembl | rs202064195 |
geneview | rs202064195 |
scholar | rs202064195 |
rs202064195 | |
pharmgkb | rs202064195 |
gwascentral | rs202064195 |
openSNP | rs202064195 |
23andMe | rs202064195 |
SNPshot | rs202064195 |
SNPdbe | rs202064195 |
MSV3d | rs202064195 |
GWAS Ctlg | rs202064195 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs202064195(T;T) |
Alt | rs202064195(T;T) |
Reference | Rs202064195(C;C) |
Significance | Pathogenic |
Disease | not provided Adenylosuccinate lyase deficiency |
Variation | info |
Gene | ADSL |
CLNDBN | not provided Adenylosuccinate lyase deficiency |
Reversed | 0 |
HGVS | NC_000022.10:g.40757582C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000186684.2, RCV000278336.1, |