Disease: Hereditary Sensory and Autonomic Neuropathies
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs267607087
SPTLC1
0.851 0.120 9 92047261 missense variant G/A;T snv 5
rs587777108
ATL3 ; LOC107984336
0.925 0.080 11 63646550 missense variant T/C snv 5
rs119482084
SPTLC1
1.000 0.080 9 92038342 missense variant C/G;T snv 4.3E-04; 1.2E-05 2