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 | 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 |