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: rs111033559
rs111033559
0.925 0.040 6 118558946 missense variant C/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.710 1.000 9 2003 2018
dbSNP: rs111033559
rs111033559
0.925 0.040 6 118558946 missense variant C/T snv
CUI: C1835928
Disease: CARDIOMYOPATHY, DILATED, 1P
CARDIOMYOPATHY, DILATED, 1P
0.800 1.000 0 2003 2012
dbSNP: rs111033559
rs111033559
0.925 0.040 6 118558946 missense variant C/T snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 0