rs398123151
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | Carrier of a homocystinuria mutation |
Make rs398123151(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 21 |
Position | 43062344 |
Gene | CBS |
is a | snp |
is | mentioned by |
dbSNP | rs398123151 |
dbSNP (classic) | rs398123151 |
ClinGen | rs398123151 |
ebi | rs398123151 |
HLI | rs398123151 |
Exac | rs398123151 |
Gnomad | rs398123151 |
Varsome | rs398123151 |
LitVar | rs398123151 |
Map | rs398123151 |
PheGenI | rs398123151 |
Biobank | rs398123151 |
1000 genomes | rs398123151 |
hgdp | rs398123151 |
ensembl | rs398123151 |
geneview | rs398123151 |
scholar | rs398123151 |
rs398123151 | |
pharmgkb | rs398123151 |
gwascentral | rs398123151 |
openSNP | rs398123151 |
23andMe | rs398123151 |
SNPshot | rs398123151 |
SNPdbe | rs398123151 |
MSV3d | rs398123151 |
GWAS Ctlg | rs398123151 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs398123151(T;T) |
Alt | rs398123151(T;T) |
Reference | Rs398123151(C;C) |
Significance | Pathogenic |
Disease | not provided Homocystinuria due to CBS deficiency |
Variation | info |
Gene | CBSL CBS |
CLNDBN | not provided Homocystinuria due to CBS deficiency |
Reversed | 1 |
HGVS | NC_000021.8:g.44482454G>A |
CLNSRC | HGMD UniProtKB (protein) |
CLNACC | RCV000078105.6, RCV000169310.2, |