rs104893922, SMN1;SMN2

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.
HMN (Hereditary Motor Neuropathy) Proximal Type I
CUI: C0043116
Disease: HMN (Hereditary Motor Neuropathy) Proximal Type I
8 0.925 0.080 5 70946157 missense variant A/G snv 0.800 1.000 8 1995 2011
Spinal Muscular Atrophy
CUI: C0026847
Disease: Spinal Muscular Atrophy
33 0.925 0.080 5 70946157 missense variant A/G snv 0.040 1.000 4 1997 2002
Neurodegenerative Disorders
CUI: C0524851
Disease: Neurodegenerative Disorders
85 0.925 0.080 5 70946157 missense variant A/G snv 0.010 1.000 1 2000 2000