rs121913574, 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 129190317 missense variant G/A snv 4.0E-06 7.0E-06 0.700 1.000 4 2001 2017
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 129190317 missense variant G/A snv 4.0E-06 7.0E-06 0.700 0