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.