Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs118203707
TSC1
0.925 0.200 9 132900828 frameshift variant TTTG/- delins 4
rs1383657728
MIR6511B1 ; PKD1
0.882 0.200 16 2108290 missense variant G/A snv 7.0E-06 3
rs1057518897
PKD1
0.925 0.120 16 2103746 missense variant C/T snv 7.0E-06 3
rs1057516041
PKD1 ; LOC105371049
0.925 0.120 16 2094127 stop gained C/A;T snv 9.4E-06 2