rs1428103360, SMN2

N. diseases: 2
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 70070732 missense variant A/G snv 0.040 1.000 4 1997 2002
Neurodegenerative Disorders
CUI: C0524851
Disease: Neurodegenerative Disorders
85 1.000 0.040 5 70070732 missense variant A/G snv 0.010 1.000 1 2000 2000