Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs752298579 0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 48
rs1345176461 0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 40
rs1564045331
XPA
0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins 35
rs778543124
XPA
0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05 35
rs869312880 0.882 0.120 2 86232624 splice donor variant C/T snv 5