rs727503992, 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, merosin negative
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
109 1.000 0.120 6 129315540 frameshift variant AGGGCATTGTTTTTCAACATCCA/- delins 0.700 1.000 1 1998 1998