Source: ALL

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: rs1060503526
rs1060503526
PKD2
0.925 0.120 4 88038380 stop gained C/T snv 1.2E-05
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		0.700 0
dbSNP: rs1060503526
rs1060503526
PKD2
0.925 0.120 4 88038380 stop gained C/T snv 1.2E-05
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2 		0.700 0