rs6586282
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs6586282(C;T) |
| Make rs6586282(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 21 |
| Position | 43058387 |
| Gene | CBS |
| is a | snp |
| is | mentioned by |
| dbSNP | rs6586282 |
| dbSNP (classic) | rs6586282 |
| ClinGen | rs6586282 |
| ebi | rs6586282 |
| HLI | rs6586282 |
| Exac | rs6586282 |
| Gnomad | rs6586282 |
| Varsome | rs6586282 |
| LitVar | rs6586282 |
| Map | rs6586282 |
| PheGenI | rs6586282 |
| Biobank | rs6586282 |
| 1000 genomes | rs6586282 |
| hgdp | rs6586282 |
| ensembl | rs6586282 |
| geneview | rs6586282 |
| scholar | rs6586282 |
| rs6586282 | |
| pharmgkb | rs6586282 |
| gwascentral | rs6586282 |
| openSNP | rs6586282 |
| 23andMe | rs6586282 |
| SNPshot | rs6586282 |
| SNPdbe | rs6586282 |
| MSV3d | rs6586282 |
| GWAS Ctlg | rs6586282 |
| GMAF | 0.1419 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| GWAS snp | |
|---|---|
| PMID | [PMID 20031578 ]
|
| Trait | Plasma homocysteine |
| Title | Novel Associations of CPS1, MUT, NOX4, and DPEP1 With Plasma Homocysteine in a Healthy Population: A Genome-Wide Evaluation of 13 974 Participants in the Women's Genome Health Study |
| Risk Allele | |
| P-val | 3E-10 |
| Odds Ratio | 0.03 [NR] unit decrease in log(homocysteine) |
[PMID 18818748] Preterm birth in Caucasians is associated with coagulation and inflammation pathway gene variants.
[PMID 19303062] Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations.
[PMID 19525478] Identification of ZNF366 and PTPRD as novel determinants of plasma homocysteine in a family-based genome-wide association study.
| GWAS snp | |
|---|---|
| PMID | [PMID 23720494]
|
| Trait | Blood trace element (Se levels) |
| Title | Genome-wide association study identifies loci affecting blood copper, selenium and zinc. |
| Risk Allele | |
| P-val | 5E-6 |
| Odds Ratio | .12 [0.068-0.166] unit increase |
[PMID 26508567] Polymorphisms of cystathionine beta-synthase gene are associated with susceptibility to sepsis
| ClinVar | |
|---|---|
| Risk | rs6586282(T;T) |
| Alt | rs6586282(T;T) |
| Reference | Rs6586282(C;C) |
| Significance | Non-pathogenic |
| Disease | not specified |
| Variation | info |
| Gene | CBSL CBS |
| CLNDBN | not specified |
| Reversed | 0 |
| HGVS | NC_000021.8:g.44478497C>T |
| CLNSRC | |
| CLNACC | RCV000199911.1, |
