rs2303080
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs2303080(A;A) |
| Make rs2303080(A;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 7878311 |
| Gene | MTRR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2303080 |
| dbSNP (classic) | rs2303080 |
| ClinGen | rs2303080 |
| ebi | rs2303080 |
| HLI | rs2303080 |
| Exac | rs2303080 |
| Gnomad | rs2303080 |
| Varsome | rs2303080 |
| LitVar | rs2303080 |
| Map | rs2303080 |
| PheGenI | rs2303080 |
| Biobank | rs2303080 |
| 1000 genomes | rs2303080 |
| hgdp | rs2303080 |
| ensembl | rs2303080 |
| geneview | rs2303080 |
| scholar | rs2303080 |
| rs2303080 | |
| pharmgkb | rs2303080 |
| gwascentral | rs2303080 |
| openSNP | rs2303080 |
| 23andMe | rs2303080 |
| SNPshot | rs2303080 |
| SNPdbe | rs2303080 |
| MSV3d | rs2303080 |
| GWAS Ctlg | rs2303080 |
| GMAF | 0.04454 |
| Max Magnitude | 0 |
| ? | (A;A) (A;T) (T;T) | 28 |
|---|---|---|
|
| ||
Yasko Methylation Necessary to regenerate Methyl-B12 for use by MTR. Mutation can cause shortage, suggesting a need for more B12.
[PMID 19493349
] 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects.
| ClinVar | |
|---|---|
| Risk | rs2303080(A;A) |
| Alt | rs2303080(A;A) |
| Reference | Rs2303080(T;T) |
| Significance | Probable-non-pathogenic |
| Disease | not specified Disorders of Intracellular Cobalamin Metabolism |
| Variation | info |
| Gene | MTRR |
| CLNDBN | not specified Disorders of Intracellular Cobalamin Metabolism |
| Reversed | 0 |
| HGVS | NC_000005.9:g.7878424T>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000126886.2, RCV000266246.1, |
