Disease: Hereditary Motor and Sensory Neuropathy Type I
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913598
MPZ
0.851 0.080 1 161307361 missense variant G/A snv 5
rs371856018
MPZ
0.882 0.120 1 161307376 missense variant T/C;G snv 8.0E-06 5
rs121913584
MPZ
0.925 0.080 1 161306886 missense variant G/A;C;T snv 3.2E-05 3