rs1415944134, LAMA2

N. diseases: 1
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, due to Partial LAMA2 Deficiency
CUI: C1842898
Disease: Muscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency
7 1.000 0.120 6 129393095 frameshift variant G/-;GG delins 0.700 1.000 2 2010 2018