Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057516041
rs1057516041
PKD1 ; LOC105371049
2 0.925 0.120 16 2094127 stop gained C/A;T snv 9.4E-06 0.700 1.000 1 2016 2016
dbSNP: rs1057518897
rs1057518897
PKD1
3 0.925 0.120 16 2103746 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs118203707
rs118203707
TSC1
4 0.925 0.200 9 132900828 frameshift variant TTTG/- delins 0.700 0
dbSNP: rs1383657728
rs1383657728
PKD1 ; MIR6511B1
3 0.882 0.200 16 2108290 missense variant G/A snv 7.0E-06 0.700 0