Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs878854066 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 213 | |||
rs17860508 | 0.752 | 0.360 | 5 | 159333192 | intron variant | TTAGAG/GC | delins | 11 | |||
rs5844572 | 0.752 | 0.360 | 22 | 23893562 | intron variant | -/ATTC | delins | 11 | |||
rs1003878 | 0.882 | 0.200 | 6 | 32332045 | stop gained | G/A | snv | 0.19 | 0.23 | 3 | |
rs10168266 | 0.776 | 0.400 | 2 | 191071078 | intron variant | C/T | snv | 0.19 | 8 | ||
rs10174238 | 0.724 | 0.200 | 2 | 191108308 | intron variant | G/A | snv | 0.70 | 14 | ||
rs10181656 | 0.763 | 0.360 | 2 | 191105153 | intron variant | G/C | snv | 0.79 | 9 | ||
rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 | ||
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs10488631 | 0.742 | 0.280 | 7 | 128954129 | upstream gene variant | T/C | snv | 9.0E-02 | 13 | ||
rs10499194 | 0.752 | 0.400 | 6 | 137681500 | intron variant | C/T | snv | 0.24 | 10 | ||
rs1050501 | 0.732 | 0.440 | 1 | 161674008 | missense variant | T/C | snv | 0.16 | 0.19 | 15 | |
rs10516487 | 0.752 | 0.360 | 4 | 101829919 | missense variant | G/A;T | snv | 0.26; 8.0E-06 | 11 | ||
rs1051792 | 0.851 | 0.240 | 6 | 31411200 | missense variant | G/A | snv | 0.34 | 0.35 | 5 | |
rs1059702 | 0.807 | 0.280 | X | 154018741 | missense variant | A/G | snv | 0.72 | 7 | ||
rs1061170 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 72 | |
rs1061622 | 0.633 | 0.760 | 1 | 12192898 | missense variant | T/G | snv | 0.22 | 0.22 | 33 | |
rs1063320 | 0.752 | 0.360 | 6 | 29830972 | 3 prime UTR variant | C/G;T | snv | 12 | |||
rs1077393 | 0.882 | 0.200 | 6 | 31642752 | non coding transcript exon variant | A/G | snv | 0.44 | 3 | ||
rs10818488 | 0.776 | 0.360 | 9 | 120942809 | regulatory region variant | A/G | snv | 0.51 | 8 | ||
rs10840759 | 0.882 | 0.200 | 12 | 8138610 | intron variant | C/T | snv | 0.28 | 3 | ||
rs10889677 | 0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 | 40 | ||
rs10954213 | 0.752 | 0.200 | 7 | 128949373 | 3 prime UTR variant | G/A | snv | 0.58 | 11 | ||
rs10954214 | 0.851 | 0.160 | 7 | 128949579 | 3 prime UTR variant | C/T | snv | 0.64 | 4 |