Source: BEFREE ×
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.
Cholecystolithiasis
CUI: C0947622
Disease: Cholecystolithiasis
32 0.882 0.160 20 58840698 missense variant G/A snv 8.9E-05 7.0E-05 0.010 1.000 1 2011 2011
Cholelithiasis
CUI: C0008350
Disease: Cholelithiasis
61 0.882 0.160 20 58840698 missense variant G/A snv 8.9E-05 7.0E-05 0.010 1.000 1 2011 2011
Pseudohypoparathyroidism, Type Ia
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
7 0.882 0.160 20 58840698 missense variant G/A snv 8.9E-05 7.0E-05 0.010 1.000 1 2011 2011