LAMA2, laminin subunit alpha 2, 3908

N. diseases: 167; N. variants: 127
Disease: Muscular Dystrophy ×
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: rs202247792
rs202247792 		0.925 0.120 6 129486605 missense variant T/C;G snv 8.0E-06
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0