rs1554066397, SMN1;SMN2

N. diseases: 7
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.
Atrophic
CUI: C0333641
Disease: Atrophic
1 0.925 0.080 5 70925108 missense variant C/G;T snv 0.700 1.000 1 1998 1998
Juvenile Spinal Muscular Atrophy
CUI: C0152109
Disease: Juvenile Spinal Muscular Atrophy
17 0.925 0.080 5 70925108 missense variant C/G;T snv 0.700 1.000 1 1998 1998
Proximal muscle weakness
CUI: C0221629
Disease: Proximal muscle weakness
11 0.925 0.080 5 70925108 missense variant C/G;T snv 0.700 1.000 1 1998 1998
Absent reflex
CUI: C0234146
Disease: Absent reflex
16 0.925 0.080 5 70925108 missense variant C/G;T snv 0.700 0
Muscular Atrophy, Spinal, Type II
CUI: C0393538
Disease: Muscular Atrophy, Spinal, Type II
9 0.925 0.080 5 70925108 missense variant C/G;T snv 0.700 0
Polyminimyoclonus
CUI: C4732793
Disease: Polyminimyoclonus
1 0.925 0.080 5 70925108 missense variant C/G;T snv 0.700 0
Proximal weakness
CUI: C0750403
Disease: Proximal weakness
2 0.925 0.080 5 70925108 missense variant C/G;T snv 0.700 0