TRIM32, tripartite motif containing 32, 22954

N. diseases: 113; N. variants: 7
Disease: Limb-girdle muscular dystrophy type 2H ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs111033570
rs111033570 		0.925 0.160 9 116699201 missense variant G/A snv 8.0E-06
CUI: C0270968
Disease: Limb-girdle muscular dystrophy type 2H
Limb-girdle muscular dystrophy type 2H 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.820 1.000 5 2002 2011
dbSNP: rs121434447
rs121434447 		1.000 0.120 9 116698923 missense variant G/A snv 3.6E-05 2.1E-05
CUI: C0270968
Disease: Limb-girdle muscular dystrophy type 2H
Limb-girdle muscular dystrophy type 2H 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2002 2008