rs763835246
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs763835246(C;T) |
Make rs763835246(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 21 |
Position | 43065263 |
Gene | CBS |
is a | snp |
is | mentioned by |
dbSNP | rs763835246 |
dbSNP (classic) | rs763835246 |
ClinGen | rs763835246 |
ebi | rs763835246 |
HLI | rs763835246 |
Exac | rs763835246 |
Gnomad | rs763835246 |
Varsome | rs763835246 |
LitVar | rs763835246 |
Map | rs763835246 |
PheGenI | rs763835246 |
Biobank | rs763835246 |
1000 genomes | rs763835246 |
hgdp | rs763835246 |
ensembl | rs763835246 |
geneview | rs763835246 |
scholar | rs763835246 |
rs763835246 | |
pharmgkb | rs763835246 |
gwascentral | rs763835246 |
openSNP | rs763835246 |
23andMe | rs763835246 |
SNPshot | rs763835246 |
SNPdbe | rs763835246 |
MSV3d | rs763835246 |
GWAS Ctlg | rs763835246 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs763835246(G;G) rs763835246(T;T) |
Alt | rs763835246(G;G) rs763835246(T;T) |
Reference | Rs763835246(C;C) |
Significance | Probable-Pathogenic |
Disease | Homocystinuria due to CBS deficiency |
Variation | info |
Gene | CBSL CBS |
CLNDBN | Homocystinuria due to CBS deficiency |
Reversed | 0 |
HGVS | NC_000021.8:g.44485373C>T |
CLNSRC | |
CLNACC | RCV000412334.1, |