rs121912998(A;G)
From SNPedia
Significance unclear: formerly associated with cardiomyopathy |
Is a | genotype |
of | rs121912998 |
Gene | DSP, LOC101928076 |
Chromosome | 6 |
Position | 7,542,003 |
mentioned | by |
Magnitude | 2 |
Geno | Mag | Summary |
---|---|---|
(A;G) | 2 | Significance unclear: formerly associated with cardiomyopathy |
(G;G) | 0 | common in clinvar |
Originally reported to be associated with arrhythmogenic right ventricular dysplasia (ARVD8) and cardiomyopathy, but significance is now considered unclear; ClinVar lists it as pathogenic at last check.