rs75586164, SMN2

N. diseases: 4
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 0.925 0.080 5 70070651 missense variant C/T snv 1.3E-04 0.700 0
Muscle Weakness
CUI: C0151786
Disease: Muscle Weakness
87 0.925 0.080 5 70070651 missense variant C/T snv 1.3E-04 0.010 1 2014 2014
Paresis
CUI: C0030552
Disease: Paresis
49 0.925 0.080 5 70070651 missense variant C/T snv 1.3E-04 0.010 1 2014 2014
Spinal Muscular Atrophy
CUI: C0026847
Disease: Spinal Muscular Atrophy
33 0.925 0.080 5 70070651 missense variant C/T snv 1.3E-04 0.010 1.000 1 1997 1997