rs1142530
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs1142530(C;T) |
| Make rs1142530(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 1388539 |
| Gene | NDUFS7 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1142530 |
| dbSNP (classic) | rs1142530 |
| ClinGen | rs1142530 |
| ebi | rs1142530 |
| HLI | rs1142530 |
| Exac | rs1142530 |
| Gnomad | rs1142530 |
| Varsome | rs1142530 |
| LitVar | rs1142530 |
| Map | rs1142530 |
| PheGenI | rs1142530 |
| Biobank | rs1142530 |
| 1000 genomes | rs1142530 |
| hgdp | rs1142530 |
| ensembl | rs1142530 |
| geneview | rs1142530 |
| scholar | rs1142530 |
| rs1142530 | |
| pharmgkb | rs1142530 |
| gwascentral | rs1142530 |
| openSNP | rs1142530 |
| 23andMe | rs1142530 |
| SNPshot | rs1142530 |
| SNPdbe | rs1142530 |
| MSV3d | rs1142530 |
| GWAS Ctlg | rs1142530 |
| GMAF | 0.444 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 16436204
] GPNN: power studies and applications of a neural network method for detecting gene-gene interactions in studies of human disease.
| ClinVar | |
|---|---|
| Risk | rs1142530(T;T) |
| Alt | rs1142530(T;T) |
| Reference | Rs1142530(C;C) |
| Significance | Probable-non-pathogenic |
| Disease | not specified Leigh syndrome Mitochondrial complex I deficiency |
| Variation | info |
| Gene | NDUFS7 |
| CLNDBN | not specified Leigh syndrome Mitochondrial complex I deficiency |
| Reversed | 0 |
| HGVS | NC_000019.9:g.1388538C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000117716.2, RCV000342300.1, RCV000407392.1, |
