Source: CLINVAR

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: rs368200299
rs368200299
2 178620285 stop gained G/A;T snv 4.9E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 0
dbSNP: rs368200299
rs368200299
2 178620285 stop gained G/A;T snv 4.9E-06
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 0