rs1562449164, LAMA2

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Muscular Dystrophies, Limb-Girdle
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
37 1.000 0.120 6 129314653 splice acceptor variant A/C snv 0.700 0
Muscular dystrophy congenital, merosin negative
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
109 1.000 0.120 6 129314653 splice acceptor variant A/C snv 0.700 0