Disease: Hereditary Motor and Sensory-Neuropathy Type II
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs119103268
MFN2
0.827 0.080 1 11992689 missense variant C/T snv 5
rs59885338
LMNA
0.851 0.120 1 156135268 missense variant C/T snv 3.6E-05 2.8E-05 4
rs60864230
LMNA
0.790 0.280 1 156130658 missense variant G/A;C;T snv 4.0E-06 4
rs267606621
AARS1
0.882 0.080 16 70268356 missense variant C/T snv 3
rs28940294
MFN2
0.882 0.080 1 12001423 missense variant G/A snv 4.0E-06 3