Disease: Cystinuria type 1
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121908479
SLC7A9
0.925 0.120 19 32862557 missense variant C/T snv 4.0E-06 2
rs121912691
SLC3A1
0.925 0.120 2 44312653 missense variant T/A;C snv 9.2E-05; 2.5E-03 2
rs369641941
SLC3A1
0.925 0.120 2 44281423 missense variant C/G;T snv 9.1E-05 2