rs1800278
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (G;G) | 0.5 |
| Make rs1800278(A;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | X |
| Position | 31478309 |
| Gene | DMD |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1800278 |
| dbSNP (classic) | rs1800278 |
| ClinGen | rs1800278 |
| ebi | rs1800278 |
| HLI | rs1800278 |
| Exac | rs1800278 |
| Gnomad | rs1800278 |
| Varsome | rs1800278 |
| LitVar | rs1800278 |
| Map | rs1800278 |
| PheGenI | rs1800278 |
| Biobank | rs1800278 |
| 1000 genomes | rs1800278 |
| hgdp | rs1800278 |
| ensembl | rs1800278 |
| geneview | rs1800278 |
| scholar | rs1800278 |
| rs1800278 | |
| pharmgkb | rs1800278 |
| gwascentral | rs1800278 |
| openSNP | rs1800278 |
| 23andMe | rs1800278 |
| SNPshot | rs1800278 |
| SNPdbe | rs1800278 |
| MSV3d | rs1800278 |
| GWAS Ctlg | rs1800278 |
| GMAF | 0.03869 |
| Max Magnitude | 0.5 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
omim notes that [PMID 7881286] links this snp to Duchenne muscular dystrophy, but hapmap frequency makes that seem very unlikely.
| ClinVar | |
|---|---|
| Risk | Rs1800278(G;G) |
| Alt | Rs1800278(G;G) |
| Reference | Rs1800278(A;A) |
| Significance | Other |
| Disease | Duchenne muscular dystrophy not specified Cardiovascular phenotype Dilated cardiomyopathy 3B |
| Variation | info |
| Gene | DMD |
| CLNDBN | Duchenne muscular dystrophy not specified Cardiovascular phenotype Dilated cardiomyopathy 3B |
| Reversed | 1 |
| HGVS | NC_000023.10:g.31496426T>C |
| CLNSRC | HGMD OMIM Allelic Variant |
| CLNACC | RCV000012019.17, RCV000080811.7, RCV000242355.1, RCV000264708.1, |
