Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104893877 0.614 0.360 4 89828149 missense variant C/T snv 59
rs796052505 0.724 0.440 5 162095551 missense variant G/A;C snv 57
rs1085307993 0.716 0.440 5 161331056 missense variant C/T snv 53
rs1131692231 0.827 0.280 5 157294834 missense variant C/T snv 13
rs1561515242 1.000 0.080 5 111482938 splice donor variant G/A snv 6
rs531630376 1.000 0.080 5 141955844 stop gained C/A snv 4.0E-06 4
rs1554208945 0.752 0.240 6 87260207 missense variant A/C snv 26
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs2032582 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 97
rs1554317002 0.724 0.440 7 39950821 frameshift variant C/- delins 45
rs1554389088 0.807 0.160 7 44243526 missense variant G/A snv 27
rs104894003 0.827 0.320 7 5528536 missense variant G/A snv 7
rs1554504663 0.851 0.080 8 23007627 missense variant G/A snv 11
rs267606695
CA8
1.000 0.160 8 60266044 missense variant A/C;G snv 5
rs374512193 0.925 0.120 8 42838177 missense variant T/C snv 5.2E-05 5.6E-05 4
rs1554504684 1.000 8 23007711 missense variant G/A snv 3
rs146087734 8 42843038 synonymous variant G/A snv 7.6E-05 1.5E-04 2
rs1182 0.790 0.160 9 129813781 3 prime UTR variant C/A snv 0.17 9
rs1801968 0.827 0.040 9 129818622 missense variant C/G;T snv 0.13; 4.0E-06 7
rs3842225 0.882 0.120 9 129813148 3 prime UTR variant C/- del 0.16 6
rs727502811 0.882 0.080 9 129814108 missense variant C/T snv 9.1E-05 6.3E-05 6
rs1269252748 9 2641436 missense variant C/T snv 4
rs142909469 9 129818877 missense variant G/A;C snv 3.0E-04; 4.0E-06 2
rs1476648522 9 129814009 missense variant G/A snv 8.0E-06; 1.2E-05 3.5E-05 2
rs35153737 9 129813558 3 prime UTR variant C/- del 0.14 2