Disease: Amyloidosis
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121912438
SOD1
0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 58
rs63750231
PSEN1
0.689 0.160 14 73198100 missense variant A/C;G snv 23
rs1475170339
IGFALS ; SPSB3
0.732 0.240 16 1792325 missense variant T/C;G snv 18
rs781049584
APP
0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06 18
rs63750526
PSEN1
0.776 0.160 14 73192832 missense variant C/A snv 10