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
rs121913603
MPZ
0.732 0.160 1 161306722 missense variant T/C;G snv 2.0E-05 12
rs121913595
MPZ
0.742 0.160 1 161306785 missense variant G/A;T snv 11
rs121913586
MPZ
0.752 0.200 1 161306414 missense variant C/G;T snv 10
rs1553259648
MPZ
0.776 0.160 1 161306759 missense variant G/C;T snv 8