rs763036586
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs763036586(C;T) |
Make rs763036586(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 21 |
Position | 43060450 |
Gene | CBS |
is a | snp |
is | mentioned by |
dbSNP | rs763036586 |
dbSNP (classic) | rs763036586 |
ClinGen | rs763036586 |
ebi | rs763036586 |
HLI | rs763036586 |
Exac | rs763036586 |
Gnomad | rs763036586 |
Varsome | rs763036586 |
LitVar | rs763036586 |
Map | rs763036586 |
PheGenI | rs763036586 |
Biobank | rs763036586 |
1000 genomes | rs763036586 |
hgdp | rs763036586 |
ensembl | rs763036586 |
geneview | rs763036586 |
scholar | rs763036586 |
rs763036586 | |
pharmgkb | rs763036586 |
gwascentral | rs763036586 |
openSNP | rs763036586 |
23andMe | rs763036586 |
SNPshot | rs763036586 |
SNPdbe | rs763036586 |
MSV3d | rs763036586 |
GWAS Ctlg | rs763036586 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs763036586(T;T) |
Alt | rs763036586(T;T) |
Reference | Rs763036586(C;C) |
Significance | Pathogenic |
Disease | Homocystinuria due to CBS deficiency not provided |
Variation | info |
Gene | CBSL CBS |
CLNDBN | Homocystinuria due to CBS deficiency not provided |
Reversed | 0 |
HGVS | NC_000021.8:g.44480560C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000169171.1, RCV000480748.1, |