Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1209130981
rs1209130981
LAMA2
1.000 0.120 6 129149008 frameshift variant AT/- del 2.8E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 6 2003 2016
dbSNP: rs1209130981
rs1209130981
LAMA2
1.000 0.120 6 129149008 frameshift variant AT/- del 2.8E-05
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		0.700 0