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: rs1057518856
rs1057518856
PKD1
5 0.882 0.240 16 2102397 missense variant A/T snv 0.700 0
dbSNP: rs1057518923
rs1057518923
PKD1
3 0.925 0.200 16 2115395 frameshift variant -/C 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
dbSNP: rs139991238
rs139991238
PRKCSH
1 1.000 0.120 19 11441305 missense variant G/A snv 1.5E-03 1.3E-03 0.010 1.000 1 2012 2012
dbSNP: rs1553849919
rs1553849919
DNAJB11 ; TBCCD1
3 0.882 0.240 3 186572187 missense variant C/G snv 0.010 1.000 1 2018 2018