LAMA2, laminin subunit alpha 2, 3908

N. diseases: 167; N. variants: 127
Disease: Congenital muscular dystrophy (disorder) ×
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: rs1562530132
rs1562530132 		1.000 0.120 6 129401238 frameshift variant T/- del
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0