rs377025174
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs377025174(C;T) |
| Make rs377025174(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 2 |
| Position | 218661192 |
| Gene | BCS1L, ZNF142 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs377025174 |
| dbSNP (classic) | rs377025174 |
| ClinGen | rs377025174 |
| ebi | rs377025174 |
| HLI | rs377025174 |
| Exac | rs377025174 |
| Gnomad | rs377025174 |
| Varsome | rs377025174 |
| LitVar | rs377025174 |
| Map | rs377025174 |
| PheGenI | rs377025174 |
| Biobank | rs377025174 |
| 1000 genomes | rs377025174 |
| hgdp | rs377025174 |
| ensembl | rs377025174 |
| geneview | rs377025174 |
| scholar | rs377025174 |
| rs377025174 | |
| pharmgkb | rs377025174 |
| gwascentral | rs377025174 |
| openSNP | rs377025174 |
| 23andMe | rs377025174 |
| SNPshot | rs377025174 |
| SNPdbe | rs377025174 |
| MSV3d | rs377025174 |
| GWAS Ctlg | rs377025174 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs377025174(T;T) |
| Alt | rs377025174(T;T) |
| Reference | Rs377025174(C;C) |
| Significance | Probable-Pathogenic |
| Disease | not provided Mitochondrial complex III deficiency |
| Variation | info |
| Gene | ZNF142 BCS1L |
| CLNDBN | not provided Mitochondrial complex III deficiency |
| Reversed | 0 |
| HGVS | NC_000002.11:g.219525915C>T |
| CLNSRC | |
| CLNACC | RCV000197059.2, RCV000415034.1, |
