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: rs1057518920
rs1057518920
DSP
0.925 0.080 6 7575386 stop gained C/A snv
CUI: C0085298
Disease: Sudden Cardiac Death
Sudden Cardiac Death 		0.700 0
dbSNP: rs1057518920
rs1057518920
DSP
0.925 0.080 6 7575386 stop gained C/A snv
CUI: C0042510
Disease: Ventricular Fibrillation
Ventricular Fibrillation 		0.700 0
dbSNP: rs1057518920
rs1057518920
DSP
0.925 0.080 6 7575386 stop gained C/A snv
CUI: C0265004
Disease: Dilatation of aorta
Dilatation of aorta 		0.700 0
dbSNP: rs1057518920
rs1057518920
DSP
0.925 0.080 6 7575386 stop gained C/A snv
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		0.700 0
dbSNP: rs1057518920
rs1057518920
DSP
0.925 0.080 6 7575386 stop gained C/A snv
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		0.700 0