Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1064794259 | 1.000 | 0.080 | 19 | 11113615 | missense variant | C/T | snv | 2 | |||
rs10757278 | 0.620 | 0.520 | 9 | 22124478 | intron variant | A/G | snv | 0.40 | 44 | ||
rs10911021 | 0.807 | 0.160 | 1 | 182112825 | intron variant | C/T | snv | 0.36 | 11 | ||
rs1108580 | 0.790 | 0.240 | 9 | 133639992 | splice region variant | A/G | snv | 0.45 | 0.54 | 9 | |
rs114303883 | 1.000 | 0.160 | 16 | 16182534 | stop gained | C/A;T | snv | 9.1E-05 | 4.2E-05 | 8 | |
rs146243018 | 18 | 22200698 | missense variant | C/G | snv | 2.5E-04 | 1.7E-04 | 1 | |||
rs1481200467 | 0.925 | 0.200 | 16 | 16173393 | stop gained | G/C;T | snv | 4.0E-06 | 7.0E-06 | 7 | |
rs1555512158 | 0.925 | 0.200 | 16 | 16177554 | missense variant | C/G | snv | 6 | |||
rs1555513085 | 0.925 | 0.200 | 16 | 16182486 | frameshift variant | TCTC/- | delins | 8 | |||
rs1555514089 | 0.925 | 0.200 | 16 | 16187213 | splice acceptor variant | T/C | snv | 4 | |||
rs1555514467 | 1.000 | 0.160 | 16 | 16188897 | frameshift variant | AG/- | delins | 6 | |||
rs1555520991 | 0.925 | 0.200 | 16 | 16212248 | splice acceptor variant | T/C | snv | 5 | |||
rs1611115 | 0.732 | 0.280 | 9 | 133635393 | upstream gene variant | T/C | snv | 0.80 | 16 | ||
rs199473620 | 1.000 | 0.080 | 3 | 38554372 | stop gained | C/A;T | snv | 2 | |||
rs281432 | 0.851 | 0.280 | 19 | 10279982 | intron variant | C/G | snv | 0.52 | 12 | ||
rs2856597 | 0.925 | 0.200 | 16 | 16219935 | missense variant | C/T | snv | 3.0E-04 | 5 | ||
rs28939702 | 0.851 | 0.320 | 16 | 16154899 | missense variant | G/A;T | snv | 8.2E-05 | 13 | ||
rs370588269 | 8 | 11756964 | missense variant | G/A | snv | 2.4E-05 | 7.0E-05 | 1 | |||
rs3742264 | 0.742 | 0.400 | 13 | 46073959 | missense variant | C/T | snv | 0.31 | 0.35 | 17 | |
rs4646156 | X | 15578920 | intron variant | A/T | snv | 2 | |||||
rs4977574 | 0.695 | 0.520 | 9 | 22098575 | intron variant | A/G;T | snv | 26 | |||
rs5443 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 106 | |
rs60791294 | 0.882 | 0.280 | 16 | 16163086 | missense variant | C/G;T | snv | 7.6E-05 | 11 | ||
rs63749794 | 0.925 | 0.160 | 16 | 16163159 | missense variant | G/A | snv | 9.2E-05 | 4.2E-05 | 7 | |
rs63749796 | 0.925 | 0.200 | 16 | 16159505 | missense variant | C/G | snv | 9 |