Source: CLINVAR ×
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.
Limb-girdle muscular dystrophy type 2H
CUI: C0270968
Disease: Limb-girdle muscular dystrophy type 2H
1 0.925 0.160 9 116699201 missense variant G/A snv 8.0E-06 0.820 1.000 3 2002 2011
Bardet-Biedl Syndrome
CUI: C0752166
Disease: Bardet-Biedl Syndrome
157 0.925 0.160 9 116699201 missense variant G/A snv 8.0E-06 0.700 1.000 4 2002 2013
Myopathy
CUI: C0026848
Disease: Myopathy
63 0.925 0.160 9 116699201 missense variant G/A snv 8.0E-06 0.700 0