Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1114167296 | 0.827 | 0.160 | X | 34656995 | missense variant | C/G | snv | 6 | |||
rs1114167298 | 0.882 | 0.120 | 3 | 6861849 | missense variant | T/C | snv | 7.0E-06 | 5 | ||
rs1114167300 | 0.925 | 0.040 | 3 | 7578878 | missense variant | C/T | snv | 6 | |||
rs1114167301 | 0.925 | 0.040 | 3 | 7578930 | missense variant | C/A;T | snv | 4.0E-06 | 6 | ||
rs1131690805 | 0.925 | 6 | 26156815 | frameshift variant | -/G | delins | 3 | ||||
rs1131692154 | 0.925 | 0.160 | 6 | 33432700 | stop gained | C/T | snv | 6 | |||
rs113460156 | 19 | 38473772 | splice donor variant | G/A;C | snv | 1 | |||||
rs1135402761 | 0.827 | 0.320 | 12 | 79448958 | missense variant | T/C | snv | 11 | |||
rs113871094 | 0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv | 34 | |||
rs115079861 | 1.000 | 6 | 151405236 | stop lost | C/G;T | snv | 2.0E-05; 4.0E-03 | 3 | |||
rs1156904586 | 1.000 | 13 | 25577115 | frameshift variant | -/T | delins | 1.4E-05 | 3 | |||
rs1158141270 | 0.925 | 13 | 101061967 | splice donor variant | C/A | snv | 4.0E-06 | 3 | |||
rs116128702 | 1.000 | 5 | 13923369 | stop gained | C/A;G;T | snv | 4.0E-06; 2.4E-05 | 4 | |||
rs1163944538 | 0.641 | 0.560 | 17 | 75494905 | frameshift variant | -/A | delins | 4.0E-06 | 73 | ||
rs1167512470 | 1.000 | 20 | 761123 | missense variant | A/G | snv | 9.2E-06 | 2 | |||
rs1182326570 | 0.925 | 6 | 98926883 | stop gained | T/A | snv | 8.0E-06 | 3 | |||
rs1197561990 | 0.925 | 0.080 | 2 | 151664609 | splice acceptor variant | C/G;T | snv | 7.0E-06 | 3 | ||
rs120074152 | 0.925 | 0.320 | 8 | 99384294 | stop gained | C/T | snv | 4.0E-06 | 7.0E-06 | 3 | |
rs1209130981 | 1.000 | 0.120 | 6 | 129149008 | frameshift variant | AT/- | del | 2.8E-05 | 2 | ||
rs1213060424 | X | 70449787 | stop gained | C/A;T | snv | 2 | |||||
rs121434407 | 0.882 | 0.120 | 9 | 128536414 | missense variant | G/A | snv | 2.7E-04 | 9.8E-05 | 5 | |
rs121907960 | 1.000 | 0.120 | 15 | 72349148 | inframe deletion | GAA/- | delins | 3 | |||
rs121907966 | 0.882 | 0.160 | 15 | 72345477 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 9 | |
rs121907972 | 0.925 | 0.160 | 15 | 72353130 | missense variant | G/A | snv | 8.0E-06 | 1.4E-05 | 6 | |
rs121907978 | 0.925 | 0.160 | 15 | 72346296 | missense variant | C/G;T | snv | 7 |