Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs200484060 1.000 18 31536370 missense variant T/G snv 5.6E-05 1.4E-05 4
rs45544633 1.000 0.080 14 23417174 missense variant G/A snv 4
rs10927875 1.000 0.040 1 15972817 intron variant C/T snv 0.29 3
rs121912998 1.000 0.040 6 7542003 missense variant G/A snv 1.6E-03 1.1E-03 3
rs121918086
TTR
1.000 0.120 18 31595160 missense variant G/A snv 3
rs1242465339 1.000 0.080 19 29207763 stop gained G/A;T snv 7.0E-06 3
rs1568344751 1.000 0.080 19 29208159 splice acceptor variant C/G snv 3
rs1568346416 1.000 0.080 19 29213078 missense variant A/T snv 3
rs267607486
DES
1.000 0.160 2 219420346 missense variant G/A;C snv 3
rs267607554 1.000 0.080 1 156135925 stop gained C/T snv 3
rs371678190 1.000 0.040 2 178578066 stop gained G/A;T snv 4.0E-06; 5.6E-05 3
rs397516028 1.000 0.080 11 47332594 missense variant A/G snv 3
rs397516142 1.000 0.080 14 23425357 missense variant C/A;G;T snv 8.0E-06; 1.6E-05 3
rs587777425 1.000 1 160237145 missense variant G/A;T snv 3
rs730880365 1.000 0.040 2 178549998 frameshift variant -/T delins 8.1E-06 3
rs121912677 1.000 0.080 15 34793326 missense variant T/C snv 2
rs121918070
TTR
1.000 0.120 18 31595157 missense variant A/G snv 4.0E-06 1.4E-05 2
rs1425855043 1.000 0.080 12 32878105 stop gained C/A snv 2
rs144983062 1.000 0.080 12 55693209 missense variant C/T snv 4.3E-03 3.4E-03 2
rs1465957886
SI
1.000 0.120 3 165046930 missense variant G/A snv 4.0E-06 2
rs147435491 1.000 0.080 9 133730099 missense variant C/T snv 6.4E-05 7.0E-05 2
rs150815925 1.000 0.040 14 23388321 missense variant C/T snv 4.0E-06; 3.9E-04 4.3E-04 2
rs1555122928 1.000 0.080 11 47347434 frameshift variant C/- del 2
rs1565631430 1.000 0.080 11 47350600 frameshift variant ATGGGCTCTG/- del 2
rs193922697 1.000 0.040 7 151576438 missense variant G/A;T snv 1.6E-05 2