rs1537514
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs1537514(C;G) |
| Make rs1537514(G;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 1 |
| Position | 11788011 |
| Gene | C1orf167, MTHFR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1537514 |
| dbSNP (classic) | rs1537514 |
| ClinGen | rs1537514 |
| ebi | rs1537514 |
| HLI | rs1537514 |
| Exac | rs1537514 |
| Gnomad | rs1537514 |
| Varsome | rs1537514 |
| LitVar | rs1537514 |
| Map | rs1537514 |
| PheGenI | rs1537514 |
| Biobank | rs1537514 |
| 1000 genomes | rs1537514 |
| hgdp | rs1537514 |
| ensembl | rs1537514 |
| geneview | rs1537514 |
| scholar | rs1537514 |
| rs1537514 | |
| pharmgkb | rs1537514 |
| gwascentral | rs1537514 |
| openSNP | rs1537514 |
| 23andMe | rs1537514 |
| SNPshot | rs1537514 |
| SNPdbe | rs1537514 |
| MSV3d | rs1537514 |
| GWAS Ctlg | rs1537514 |
| GMAF | 0.08999 |
| Max Magnitude | 0 |
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 21765920
] Bioinformatic and Genetic Association Analysis of MicroRNA Target Sites in One-Carbon Metabolism Genes
[PMID 19493349] 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects.
| ClinVar | |
|---|---|
| Risk | rs1537514(G;G) |
| Alt | rs1537514(G;G) |
| Reference | Rs1537514(C;C) |
| Significance | Probable-non-pathogenic |
| Disease | Neural tube defects |
| Variation | info |
| Gene | MTHFR C1orf167 |
| CLNDBN | Neural tube defects, folate-sensitive |
| Reversed | 1 |
| HGVS | NC_000001.10:g.11848068G>C |
| CLNSRC | |
| CLNACC | RCV000354545.1, |
