Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs769603301 16 72811684 missense variant G/A;C snv 1.6E-05; 4.0E-06 1
rs1565798439 12 71610513 missense variant A/G snv 1
rs767539150 12 71656953 missense variant C/T snv 1.8E-04 1.7E-04 1
rs1333906033 22 49883834 stop gained C/T snv 4.0E-06 1
rs1339616347
WRN
0.925 0.120 8 31068328 splice donor variant G/T snv 6
rs150300426 3 49014077 missense variant G/A snv 3.6E-05 1.4E-05 1
rs537353127 11 61273265 stop gained G/A;C;T snv 4.0E-06; 4.0E-06; 8.0E-06 1
rs386834061 0.925 0.360 8 99868312 stop gained C/T snv 2.1E-05 10
rs1057518939 1.000 0.040 8 99511424 frameshift variant A/- del 9
rs141844660 6 99443648 stop gained C/A snv 1.3E-04 1.2E-04 1
rs1562391520 6 99482871 missense variant C/T snv 1
rs1562456317 6 99508705 missense variant A/C snv 1
rs1557523211 1 55073913 splice region variant G/A snv 1
rs80338903 0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 25
rs144709443 1 19155051 missense variant C/T snv 1.2E-05 1.4E-05 1
rs747867083 1 19119624 missense variant C/T snv 4.0E-06 7.0E-06 1
rs748323629 1 19151825 missense variant T/C snv 8.0E-06 2.8E-05 1
rs761960636 1 19094058 missense variant G/T snv 3.2E-05 1
rs776593168 1 19167086 missense variant G/A;C snv 1.2E-05; 1.2E-05 1
rs181109321 0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05 15
rs1562308994 6 99446205 missense variant T/C snv 1
rs1057518791 0.925 0.120 8 115604739 stop gained C/T snv 7
rs199474657
TRNL1 ; ND1 ; ND2
0.752 0.360 MT 3243 non coding transcript exon variant A/G snv 15
rs1553655558 0.752 0.360 2 229830831 frameshift variant A/- delins 43
rs1400419650 0.708 0.320 14 92005938 stop gained C/A;T snv 4.0E-06 1.4E-05 38