rs121912998
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 2 | Significance unclear: formerly associated with cardiomyopathy |
| (G;G) | 0 | common in clinvar |
| Make rs121912998(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 6 |
| Position | 7542003 |
| Gene | DSP, LOC101928076 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121912998 |
| dbSNP (classic) | rs121912998 |
| ClinGen | rs121912998 |
| ebi | rs121912998 |
| HLI | rs121912998 |
| Exac | rs121912998 |
| Gnomad | rs121912998 |
| Varsome | rs121912998 |
| LitVar | rs121912998 |
| Map | rs121912998 |
| PheGenI | rs121912998 |
| Biobank | rs121912998 |
| 1000 genomes | rs121912998 |
| hgdp | rs121912998 |
| ensembl | rs121912998 |
| geneview | rs121912998 |
| scholar | rs121912998 |
| rs121912998 | |
| pharmgkb | rs121912998 |
| gwascentral | rs121912998 |
| openSNP | rs121912998 |
| 23andMe | rs121912998 |
| SNPshot | rs121912998 |
| SNPdbe | rs121912998 |
| MSV3d | rs121912998 |
| GWAS Ctlg | rs121912998 |
| GMAF | 0.001837 |
| Max Magnitude | 2 |
| ClinVar | |
|---|---|
| Risk | rs121912998(A;A) |
| Alt | rs121912998(A;A) |
| Reference | Rs121912998(G;G) |
| Significance | Other |
| Disease | Arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy not specified Cardiomyopathy dilated with woolly hair and keratoderma Cardiomyopathy Right ventricular cardiomyopathy |
| Variation | info |
| Gene | LOC101928076 DSP |
| CLNDBN | Arrhythmogenic right ventricular cardiomyopathy, type 8 Arrhythmogenic right ventricular cardiomyopathy not specified Cardiomyopathy dilated with woolly hair and keratoderma Cardiomyopathy Cardiomyopathy, ARVC Right ventricular cardiomyopathy |
| Reversed | 0 |
| HGVS | NC_000006.11:g.7542236G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000018340.29, RCV000029685.5, RCV000038118.6, RCV000226589.2, RCV000234980.1, RCV000278014.1, RCV000415109.1, |
[PMID 17499] Renal tubular acidosis.
[PMID 16917092] Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy.
[PMID 18382419
] Mechanisms of disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy.
[PMID 19178614] Unique epidermolytic bullous dermatosis with associated lethal cardiomyopathy related to novel desmoplakin mutations.
[PMID 19892887] Animal models of arrhythmogenic cardiomyopathy.
[PMID 20152563] Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy.
