rs104893935, 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.
Muscular Atrophy, Spinal, Type II
CUI: C0393538
Disease: Muscular Atrophy, Spinal, Type II
9 0.882 0.080 5 70942416 missense variant C/G snv 0.800 1.000 7 1997 2012
HMN (Hereditary Motor Neuropathy) Proximal Type I
CUI: C0043116
Disease: HMN (Hereditary Motor Neuropathy) Proximal Type I
8 0.882 0.080 5 70942416 missense variant C/G snv 0.700 0
Spinal Muscular Atrophy
CUI: C0026847
Disease: Spinal Muscular Atrophy
33 0.882 0.080 5 70942416 missense variant C/G snv 0.010 1.000 1 2009 2009