rs1131692280, PKD2

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 0.925 0.120 4 88043458 splice donor variant G/A snv 8.0E-06 1.4E-05 0.700 1.000 11 1998 2015
Polycystic Kidney, Autosomal Dominant
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
35 0.925 0.120 4 88043458 splice donor variant G/A snv 8.0E-06 1.4E-05 0.700 1.000 5 2000 2012
Polycystic kidney disease, type 2
CUI: C2751306
Disease: Polycystic kidney disease, type 2
41 0.925 0.120 4 88043458 splice donor variant G/A snv 8.0E-06 1.4E-05 0.700 0