rs104893934, SMN2;SMN1

N. diseases: 1
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 1.000 0.080 5 70942490 missense variant C/G snv 0.800 1.000 11 1995 2016