Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057518945
TSC1
1.000 0.120 9 132921824 frameshift variant C/- delins 2
rs45517305
TSC2
0.851 0.240 16 2081646 stop gained C/A;T snv 1