COL6A2, collagen type VI alpha 2 chain, 1292

N. diseases: 124; N. variants: 63
Disease: Muscle Weakness ×
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: rs747900252
rs747900252 		0.925 0.160 21 46125776 intron variant G/A snv 1.1E-04 7.7E-05
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0