Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1001030257 | 5 | 58988559 | missense variant | T/C | snv | 2.0E-05 | 2.1E-05 | 1 | |||
rs10068737 | 5 | 118700852 | intergenic variant | T/A;C | snv | 1 | |||||
rs1009840 | 6 | 134225547 | intron variant | G/A | snv | 0.53 | 1 | ||||
rs10109414 | 1.000 | 0.080 | 8 | 23893638 | regulatory region variant | C/T | snv | 0.37 | 5 | ||
rs10178409 | 1.000 | 0.080 | 2 | 73628380 | downstream gene variant | G/T | snv | 0.26 | 2 | ||
rs1020120 | 1.000 | 0.080 | 9 | 84611173 | intron variant | C/T | snv | 0.60 | 2 | ||
rs102274 | 1.000 | 0.080 | 11 | 61790354 | non coding transcript exon variant | T/C | snv | 0.28 | 3 | ||
rs102275 | 0.827 | 0.320 | 11 | 61790331 | non coding transcript exon variant | T/C | snv | 0.47 | 18 | ||
rs1042714 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 54 | ||
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs1047891 | 0.827 | 0.200 | 2 | 210675783 | missense variant | C/A | snv | 0.30 | 0.33 | 34 | |
rs104894833 | 0.776 | 0.280 | X | 101403984 | missense variant | C/G | snv | 1.2E-04 | 1.9E-05 | 11 | |
rs1057518797 | 4 | 88008090 | frameshift variant | CCCGGGCA/TAGGACG | delins | 3 | |||||
rs1059703 | 0.851 | 0.280 | X | 154013378 | missense variant | G/A | snv | 0.67 | 6 | ||
rs1066621 | 1.000 | 0.080 | 3 | 191708066 | regulatory region variant | C/T | snv | 0.39 | 2 | ||
rs10735810 | 0.662 | 0.640 | 12 | 47879112 | start lost | A/C;G;T | snv | 26 | |||
rs10774021 | 1.000 | 0.080 | 12 | 240132 | intron variant | C/T | snv | 0.57 | 4 | ||
rs1077989 | 1.000 | 0.080 | 14 | 67509105 | intron variant | A/C | snv | 0.39 | 3 | ||
rs10794720 | 1.000 | 0.080 | 10 | 1110225 | intron variant | T/C | snv | 0.89 | 4 | ||
rs10865710 | 0.763 | 0.360 | 3 | 12311699 | intron variant | C/G | snv | 0.25 | 13 | ||
rs10906850 | 1.000 | 0.080 | 10 | 15183055 | regulatory region variant | T/C | snv | 0.29 | 2 | ||
rs11011653 | 1.000 | 0.080 | 10 | 19875064 | intron variant | A/G;T | snv | 2 | |||
rs11078903 | 17 | 39475671 | intron variant | G/A;C;T | snv | 2 | |||||
rs112201728 | 1.000 | 0.080 | 6 | 160130454 | intron variant | C/A;T | snv | 2 | |||
rs112329286 | 1.000 | 0.080 | 14 | 63773159 | intron variant | -/ATTT | delins | 0.24 | 4 |