rs1800556
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 1.5 | Considered to be a 'susceptibility' variant by some for SCAD; see text |
| Make rs1800556(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 120737875 |
| Gene | ACADS |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1800556 |
| dbSNP (classic) | rs1800556 |
| ClinGen | rs1800556 |
| ebi | rs1800556 |
| HLI | rs1800556 |
| Exac | rs1800556 |
| Gnomad | rs1800556 |
| Varsome | rs1800556 |
| LitVar | rs1800556 |
| Map | rs1800556 |
| PheGenI | rs1800556 |
| Biobank | rs1800556 |
| 1000 genomes | rs1800556 |
| hgdp | rs1800556 |
| ensembl | rs1800556 |
| geneview | rs1800556 |
| scholar | rs1800556 |
| rs1800556 | |
| pharmgkb | rs1800556 |
| gwascentral | rs1800556 |
| openSNP | rs1800556 |
| 23andMe | rs1800556 |
| SNPshot | rs1800556 |
| SNPdbe | rs1800556 |
| MSV3d | rs1800556 |
| GWAS Ctlg | rs1800556 |
| Merged from | Rs28940873 |
| GMAF | 0.02479 |
| Max Magnitude | 1.5 |
aka c.511C>T (p.Arg171Trp or R171W)
Although not quite as common as the G185S variant (rs1799958), this variant in the ACADS gene is still commonly found in apparently healthy individuals, so at worst this is likely to be a 'susceptibility allele' like G185S, presumably dependent on (unknown) factors to be problematic.
| ClinVar | |
|---|---|
| Risk | rs1800556(T;T) |
| Alt | rs1800556(T;T) |
| Reference | Rs1800556(C;C) |
| Significance | Other |
| Disease | Deficiency of butyryl-CoA dehydrogenase not provided |
| Variation | info |
| Gene | ACADS |
| CLNDBN | Deficiency of butyryl-CoA dehydrogenase not provided |
| Reversed | 0 |
| HGVS | NC_000012.11:g.121175678C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000004034.5, RCV000185683.2, |
[PMID 18704161
] Genetic variation in an individual human exome.
