Disease: Lymphangioleiomyomatosis
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs28934872
TSC2
0.851 0.200 16 2070571 missense variant G/A snv 5
rs45469298
TSC2
0.851 0.200 16 2070570 missense variant C/G;T snv 5
rs118203542
TSC1
0.851 0.200 9 132906053 stop gained G/A snv 4
rs118203631
TSC1
0.851 0.200 9 132903785 stop gained G/A snv 4