Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1551570 | 0.925 | 0.080 | 19 | 10107354 | intron variant | C/T | snv | 0.59 | 1 | ||
rs405509 | 0.667 | 0.480 | 19 | 44905579 | upstream gene variant | T/G | snv | 0.58 | 1 | ||
rs3826784 | 0.925 | 0.080 | 19 | 10116334 | non coding transcript exon variant | A/G | snv | 0.58 | 1 | ||
rs10954213 | 0.752 | 0.200 | 7 | 128949373 | 3 prime UTR variant | G/A | snv | 0.58 | 1 | ||
rs180195 | 1.000 | 8 | 132865378 | upstream gene variant | A/G | snv | 0.58 | 1 | |||
rs3766379 | 0.851 | 0.320 | 1 | 160837925 | intron variant | T/C | snv | 0.57 | 1 | ||
rs237025 | 0.672 | 0.360 | 6 | 149400554 | missense variant | G/A | snv | 0.55 | 0.57 | 1 | |
rs1341667 | 0.925 | 0.040 | 10 | 68882104 | missense variant | T/C | snv | 0.62 | 0.57 | 1 | |
rs3796619 | 4 | 1101493 | non coding transcript exon variant | A/G | snv | 0.56 | 1 | ||||
rs1143627 | 0.605 | 0.760 | 2 | 112836810 | 5 prime UTR variant | G/A | snv | 0.56 | 1 | ||
rs2240340 | 1.000 | 0.120 | 1 | 17336144 | intron variant | T/C | snv | 0.56 | 0.54 | 1 | |
rs10993994 | 0.763 | 0.280 | 10 | 46046326 | 5 prime UTR variant | A/G | snv | 0.54 | 1 | ||
rs3087456 | 0.742 | 0.480 | 16 | 10877045 | intron variant | G/A | snv | 0.53 | 1 | ||
rs143561967 | 1.000 | 0.120 | 9 | 27573524 | intron variant | GGCCCCGGCCCC/-;GGCCCC;GGCCCCGGCCCCGGCCCC;GGCCCCGGCCCCGGCCCCGGCCCC;GGCCCCGGCCCCGGCCCCGGCCCCGGCCCC;GGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC;GGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC;GGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC;GGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC;GGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC;GGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC;GGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC;GGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC;GGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC;GGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC;GGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC;GGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC;GGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC;GGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC;GGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC;GGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC;GGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC;GGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC;GGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC;GGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC | delins | 0.53 | 1 | ||
rs2004640 | 0.662 | 0.520 | 7 | 128938247 | splice donor variant | T/G | snv | 0.52 | 2 | ||
rs2736100 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 1 | ||
rs2305764 | 0.776 | 0.360 | 19 | 17203024 | non coding transcript exon variant | G/A | snv | 0.52 | 0.50 | 1 | |
rs12913832 | 0.763 | 0.200 | 15 | 28120472 | intron variant | A/G | snv | 0.50 | 1 | ||
rs763110 | 0.653 | 0.560 | 1 | 172658358 | upstream gene variant | C/T | snv | 0.49 | 1 | ||
rs2735940 | 0.689 | 0.400 | 5 | 1296371 | upstream gene variant | A/G | snv | 0.49 | 1 | ||
rs1799987 | 0.763 | 0.200 | 3 | 46370444 | intron variant | A/G | snv | 0.49 | 1 | ||
rs353647 | 1.000 | 0.080 | 11 | 35169898 | intron variant | C/G | snv | 0.49 | 1 | ||
rs7794745 | 0.851 | 0.040 | 7 | 146792514 | intron variant | A/T | snv | 0.49 | 1 | ||
rs12406470 | 1.000 | 0.040 | 1 | 198826991 | intron variant | C/T | snv | 0.48 | 1 | ||
rs324981 | 0.724 | 0.320 | 7 | 34778501 | missense variant | A/T | snv | 0.44 | 0.47 | 1 |