rs75030631, SMN2

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 Atrophy, Spinal, Type II
CUI: C0393538
Disease: Muscular Atrophy, Spinal, Type II
9 0.925 0.080 5 70049690 missense variant C/G snv 5.7E-03 0.700 1.000 5 1997 2011
Juvenile Spinal Muscular Atrophy
CUI: C0152109
Disease: Juvenile Spinal Muscular Atrophy
17 0.925 0.080 5 70049690 missense variant C/G snv 5.7E-03 0.700 1.000 4 1997 2004