rs1170466474, SMN2;SMN1

N. diseases: 3
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.
Fasciculation, Tongue
CUI: C0239548
Disease: Fasciculation, Tongue
7 1.000 0.040 5 70925180 missense variant G/A snv 8.2E-05 0.700 0
Generalized muscle weakness
CUI: C0746674
Disease: Generalized muscle weakness
4 1.000 0.040 5 70925180 missense variant G/A snv 8.2E-05 0.700 0
Spinal Muscular Atrophy
CUI: C0026847
Disease: Spinal Muscular Atrophy
33 1.000 0.040 5 70925180 missense variant G/A snv 8.2E-05 0.700 0