LAMA1, laminin subunit alpha 1, 284217

N. diseases: 107; N. variants: 21
Disease: Muscle hypotonia ×
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: rs767889331
rs767889331 		18 7012105 stop gained G/A;C;T snv 2.0E-05; 4.0E-06; 4.0E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 14 1981 2016