LAMA2, laminin subunit alpha 2, 3908

N. diseases: 167; N. variants: 127
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: rs1209130981
rs1209130981
1.000 0.120 6 129149008 frameshift variant AT/- del 2.8E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 6 2003 2016
dbSNP: rs1554269855
rs1554269855
6 129315773 frameshift variant -/G delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 6 2003 2016