Disease: TUBEROUS SCLEROSIS 1 (disorder)
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs118203478
TSC1
0.882 0.200 9 132911492 frameshift variant -/A;AA delins 5
rs118203682
TSC1
0.882 0.160 9 132902640 stop gained G/A snv 5
rs118203434
TSC1
0.925 0.120 9 132921367 stop gained G/A snv 3
rs118203728
TSC1
1.000 0.120 9 132897544 stop gained G/A snv 2