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: rs111033560
rs111033560
0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05
CUI: C1835928
Disease: CARDIOMYOPATHY, DILATED, 1P
CARDIOMYOPATHY, DILATED, 1P
0.700 1.000 6 2003 2017
dbSNP: rs111033560
rs111033560
0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest
0.700 0
dbSNP: rs111033560
rs111033560
0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 0
dbSNP: rs111033560
rs111033560
0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18
0.700 0
dbSNP: rs111033560
rs111033560
0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05
CUI: C0085298
Disease: Sudden Cardiac Death
Sudden Cardiac Death
0.700 0
dbSNP: rs111033560
rs111033560
0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.710 0.833 6 2003 2013
dbSNP: rs111033560
rs111033560
0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.710 1.000 0 2003 2003