rs141760116, 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.
Spinal Muscular Atrophy
CUI: C0026847
Disease: Spinal Muscular Atrophy
33 0.925 0.080 5 70951939 splice acceptor variant A/C;G;T snv 4.0E-06 0.700 1.000 3 2008 2015
HMN (Hereditary Motor Neuropathy) Proximal Type I
CUI: C0043116
Disease: HMN (Hereditary Motor Neuropathy) Proximal Type I
8 0.925 0.080 5 70951939 splice acceptor variant A/C;G;T snv 4.0E-06 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.925 0.080 5 70951939 splice acceptor variant A/C;G;T snv 4.0E-06 0.700 0