Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs397516484
rs397516484
0.851 0.080 1 201359244 missense variant C/G;T snv 1.2E-05
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 0
dbSNP: rs45586240
rs45586240
0.827 0.080 1 201361989 missense variant G/A;T snv 4.0E-06
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 0
dbSNP: rs730881119
rs730881119
1 201359629 frameshift variant -/G delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 0