rs786204522
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common/normal |
| Make rs786204522(-;TAGAATGAGTTAC) |
| Make rs786204522(TAGAATGAGTTAC;TAGAATGAGTTAC) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 1 |
| Position | 75761187 |
| Gene | ACADM |
| is a | snp |
| is | mentioned by |
| dbSNP | rs786204522 |
| dbSNP (classic) | rs786204522 |
| ClinGen | rs786204522 |
| ebi | rs786204522 |
| HLI | rs786204522 |
| Exac | rs786204522 |
| Gnomad | rs786204522 |
| Varsome | rs786204522 |
| LitVar | rs786204522 |
| Map | rs786204522 |
| PheGenI | rs786204522 |
| Biobank | rs786204522 |
| 1000 genomes | rs786204522 |
| hgdp | rs786204522 |
| ensembl | rs786204522 |
| geneview | rs786204522 |
| scholar | rs786204522 |
| rs786204522 | |
| pharmgkb | rs786204522 |
| gwascentral | rs786204522 |
| openSNP | rs786204522 |
| 23andMe | rs786204522 |
| SNPshot | rs786204522 |
| SNPdbe | rs786204522 |
| MSV3d | rs786204522 |
| GWAS Ctlg | rs786204522 |
| Max Magnitude | 0 |
c.999_1011dup (p.Gln338Terfs)
| ClinVar | |
|---|---|
| Risk | rs786204522(CTAGAATGAGTTA;CTAGAATGAGTTA) rs786204522(TAGAATGAGTTAC;TAGAATGAGTTAC) |
| Alt | rs786204522(CTAGAATGAGTTA;CTAGAATGAGTTA) rs786204522(TAGAATGAGTTAC;TAGAATGAGTTAC) |
| Reference | Rs786204522(-;-) |
| Significance | Other |
| Disease | Medium-chain acyl-coenzyme A dehydrogenase deficiency not provided |
| Variation | info |
| Gene | ACADM |
| CLNDBN | Medium-chain acyl-coenzyme A dehydrogenase deficiency not provided |
| Reversed | 0 |
| HGVS | NC_000001.10:g.76226860_76226872dupTAGAATGAGTTAC |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000003770.5, RCV000478348.1, |
