rs2993763
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs2993763(A;A) |
| Make rs2993763(A;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 10 |
| Position | 80273838 |
| Gene | MAT1A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2993763 |
| dbSNP (classic) | rs2993763 |
| ClinGen | rs2993763 |
| ebi | rs2993763 |
| HLI | rs2993763 |
| Exac | rs2993763 |
| Gnomad | rs2993763 |
| Varsome | rs2993763 |
| LitVar | rs2993763 |
| Map | rs2993763 |
| PheGenI | rs2993763 |
| Biobank | rs2993763 |
| 1000 genomes | rs2993763 |
| hgdp | rs2993763 |
| ensembl | rs2993763 |
| geneview | rs2993763 |
| scholar | rs2993763 |
| rs2993763 | |
| pharmgkb | rs2993763 |
| gwascentral | rs2993763 |
| openSNP | rs2993763 |
| 23andMe | rs2993763 |
| SNPshot | rs2993763 |
| SNPdbe | rs2993763 |
| MSV3d | rs2993763 |
| GWAS Ctlg | rs2993763 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
rs2993763 is a SNP in the MAT1A gene on chromosome 10.
| ClinVar | |
|---|---|
| Risk | rs2993763(A;A) |
| Alt | rs2993763(A;A) |
| Reference | Rs2993763(G;G) |
| Significance | Non-pathogenic |
| Disease | not specified Hepatic methionine adenosyltransferase deficiency |
| Variation | info |
| Gene | MAT1A |
| CLNDBN | not specified Hepatic methionine adenosyltransferase deficiency |
| Reversed | 0 |
| HGVS | NC_000010.10:g.82033594G>A |
| CLNSRC | |
| CLNACC | RCV000247170.1, RCV000330172.1, |
