rs1554082383, 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.
Spinal Muscular Atrophy
CUI: C0026847
Disease: Spinal Muscular Atrophy
33 1.000 0.040 5 70951956 frameshift variant -/A delins 0.700 0