rs1554269966, LAMA2

N. diseases: 3
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 dystrophy congenital, merosin negative
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
109 0.882 0.120 6 129315952 splice donor variant T/C snv 0.700 0
Muscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency
CUI: C1842898
Disease: Muscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency
7 0.882 0.120 6 129315952 splice donor variant T/C snv 0.700 0
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23
CUI: C4748327
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23
12 0.882 0.120 6 129315952 splice donor variant T/C snv 0.700 0