Disease: Gaucher Disease, Type Iiic
Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs76763715
GBA
0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 11
rs75822236
GBA
0.752 0.200 1 155235002 missense variant C/T snv 1.8E-04 6.1E-05 9
rs104886460
GBA
0.776 0.160 1 155240629 splice donor variant C/A;T snv 7.6E-05 8
rs1064651
GBA
0.732 0.360 1 155235727 missense variant C/G snv 1.3E-04 2.0E-04 8
rs78973108
GBA
0.776 0.160 1 155237453 missense variant C/T snv 2.8E-05 4.2E-05 8
rs80356769
GBA
0.776 0.160 1 155235772 missense variant C/A snv 3.2E-05 7.0E-06 8
rs80356771
GBA
0.776 0.160 1 155235196 missense variant G/A;T snv 7.2E-05; 4.0E-06 8