rs1561500842, SMN1;SMN2

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.
Juvenile Spinal Muscular Atrophy
CUI: C0152109
Disease: Juvenile Spinal Muscular Atrophy
17 1.000 0.080 5 70946064 splice acceptor variant A/G snv 0.700 0