rs116840805, SSUH2;CAV3

N. diseases: 6
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.
RIPPLING MUSCLE DISEASE 2 (disorder)
CUI: C1832560
Disease: RIPPLING MUSCLE DISEASE 2 (disorder)
14 0.827 0.160 3 8745725 missense variant C/T snv 0.800 1.000 12 1998 2006
Muscular Dystrophies, Limb-Girdle
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
37 0.827 0.160 3 8745725 missense variant C/T snv 0.020 1.000 2 2004 2008
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C
CUI: C1832567
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C
5 0.827 0.160 3 8745725 missense variant C/T snv 0.020 1.000 2 2004 2019
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.827 0.160 3 8745725 missense variant C/T snv 0.010 1.000 1 2004 2004
Hypertrophic obstructive cardiomyopathy
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
90 0.827 0.160 3 8745725 missense variant C/T snv 0.010 1.000 1 2004 2004
Muscular Dystrophy
CUI: C0026850
Disease: Muscular Dystrophy
67 0.827 0.160 3 8745725 missense variant C/T snv 0.010 1.000 1 2008 2008