rs1050993
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs1050993(A;G) |
| Make rs1050993(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 236899005 |
| Gene | MTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1050993 |
| dbSNP (classic) | rs1050993 |
| ClinGen | rs1050993 |
| ebi | rs1050993 |
| HLI | rs1050993 |
| Exac | rs1050993 |
| Gnomad | rs1050993 |
| Varsome | rs1050993 |
| LitVar | rs1050993 |
| Map | rs1050993 |
| PheGenI | rs1050993 |
| Biobank | rs1050993 |
| 1000 genomes | rs1050993 |
| hgdp | rs1050993 |
| ensembl | rs1050993 |
| geneview | rs1050993 |
| scholar | rs1050993 |
| rs1050993 | |
| pharmgkb | rs1050993 |
| gwascentral | rs1050993 |
| openSNP | rs1050993 |
| 23andMe | rs1050993 |
| SNPshot | rs1050993 |
| SNPdbe | rs1050993 |
| MSV3d | rs1050993 |
| GWAS Ctlg | rs1050993 |
| GMAF | 0.2645 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 20180013] Genetic polymorphisms in folate and alcohol metabolism and breast cancer risk: a case-control study in Thai women
[PMID 18381459
] Genetic variation in the one-carbon transfer pathway and ovarian cancer risk.
[PMID 19064578] No association of single nucleotide polymorphisms in one-carbon metabolism genes with prostate cancer risk.
[PMID 19493349] 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects.
| ClinVar | |
|---|---|
| Risk | rs1050993(G;G) |
| Alt | rs1050993(G;G) |
| Reference | Rs1050993(A;A) |
| Significance | Non-pathogenic |
| Disease | Disorders of Intracellular Cobalamin Metabolism |
| Variation | info |
| Gene | MTR |
| CLNDBN | Disorders of Intracellular Cobalamin Metabolism |
| Reversed | 0 |
| HGVS | NC_000001.10:g.237062305A>G |
| CLNSRC | |
| CLNACC | RCV000270883.1, |
