rs121913575, 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 dystrophy congenital, merosin negative
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
109 0.925 0.120 6 129353285 stop gained C/T snv 8.0E-06 0.700 1.000 2 2010 2016
Muscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency
CUI: C1842898
Disease: Muscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency
7 0.925 0.120 6 129353285 stop gained C/T snv 8.0E-06 0.700 0