rs121913572, 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 129481422 stop gained C/G;T snv 5.2E-05 3.5E-05 0.700 1.000 2 2010 2015
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23
CUI: C4748327
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23
12 0.882 0.120 6 129481422 stop gained C/G;T snv 5.2E-05 3.5E-05 0.700 0
Congenital muscular dystrophy (disorder)
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
20 0.882 0.120 6 129481422 stop gained C/G;T snv 5.2E-05 3.5E-05 0.010 1.000 1 2003 2003