rs34695403
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs34695403(C;T) |
| Make rs34695403(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 15 |
| Position | 40407639 |
| Gene | IVD |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34695403 |
| dbSNP (classic) | rs34695403 |
| ClinGen | rs34695403 |
| ebi | rs34695403 |
| HLI | rs34695403 |
| Exac | rs34695403 |
| Gnomad | rs34695403 |
| Varsome | rs34695403 |
| LitVar | rs34695403 |
| Map | rs34695403 |
| PheGenI | rs34695403 |
| Biobank | rs34695403 |
| 1000 genomes | rs34695403 |
| hgdp | rs34695403 |
| ensembl | rs34695403 |
| geneview | rs34695403 |
| scholar | rs34695403 |
| rs34695403 | |
| pharmgkb | rs34695403 |
| gwascentral | rs34695403 |
| openSNP | rs34695403 |
| 23andMe | rs34695403 |
| SNPshot | rs34695403 |
| SNPdbe | rs34695403 |
| MSV3d | rs34695403 |
| GWAS Ctlg | rs34695403 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34695403(G;G) rs34695403(T;T) |
| Alt | rs34695403(G;G) rs34695403(T;T) |
| Reference | Rs34695403(C;C) |
| Significance | Pathogenic |
| Disease | Isovaleryl-CoA dehydrogenase deficiency |
| Variation | info |
| Gene | IVD |
| CLNDBN | Isovaleryl-CoA dehydrogenase deficiency |
| Reversed | 0 |
| HGVS | NC_000015.9:g.40699840C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000003748.2, |
