rs121964972
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | carrier for homocystinuria which is unresponsive to vitamin B6 |
(T;T) | 4.5 | homocystinuria which is unresponsive to vitamin B6 |
Reference | GRCh38 38.1/141 |
Chromosome | 21 |
Position | 43060528 |
Gene | CBS |
is a | snp |
is | mentioned by |
dbSNP | rs121964972 |
dbSNP (classic) | rs121964972 |
ClinGen | rs121964972 |
ebi | rs121964972 |
HLI | rs121964972 |
Exac | rs121964972 |
Gnomad | rs121964972 |
Varsome | rs121964972 |
LitVar | rs121964972 |
Map | rs121964972 |
PheGenI | rs121964972 |
Biobank | rs121964972 |
1000 genomes | rs121964972 |
hgdp | rs121964972 |
ensembl | rs121964972 |
geneview | rs121964972 |
scholar | rs121964972 |
rs121964972 | |
pharmgkb | rs121964972 |
gwascentral | rs121964972 |
openSNP | rs121964972 |
23andMe | rs121964972 |
SNPshot | rs121964972 |
SNPdbe | rs121964972 |
MSV3d | rs121964972 |
GWAS Ctlg | rs121964972 |
Max Magnitude | 4.5 |
307S (common in Irish populations) is associated with a more severe form of Homocystinuria and is unresponsive to pyridoxine (vitamin B6) treatment.
ClinVar | |
---|---|
Risk | Rs121964972(T;T) |
Alt | Rs121964972(T;T) |
Reference | Rs121964972(C;C) |
Significance | Other |
Disease | Homocystinuria not provided Homocystinuria due to CBS deficiency Thoracic aortic aneurysm and aortic dissection |
Variation | info |
Gene | CBSL CBS |
CLNDBN | Homocystinuria, pyridoxine-nonresponsive not provided Homocystinuria due to CBS deficiency Thoracic aortic aneurysm and aortic dissection |
Reversed | 1 |
HGVS | NC_000021.8:g.44480638G>A |
CLNSRC | HGMD OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000000154.2, RCV000078106.5, RCV000169466.2, RCV000249963.1, |