Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 | ||
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 | |||
rs1353702185 | 0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 | 79 | ||
rs3775291 | 0.602 | 0.640 | 4 | 186082920 | missense variant | C/G;T | snv | 1.2E-04; 0.28 | 51 | ||
rs352140 | 0.630 | 0.680 | 3 | 52222681 | synonymous variant | C/A;G;T | snv | 2.0E-05; 0.49 | 42 | ||
rs17235409 | 0.653 | 0.600 | 2 | 218395009 | missense variant | G/A;C | snv | 4.9E-02; 4.1E-06 | 31 | ||
rs35761398 | 0.701 | 0.520 | 1 | 23875429 | missense variant | TT/CC | mnv | 19 | |||
rs7096206 | 0.708 | 0.480 | 10 | 52771925 | upstream gene variant | G/A;C;T | snv | 17 | |||
rs368234815 | 0.742 | 0.280 | 19 | 39248514 | frameshift variant | TT/G;T | delins | 15 | |||
rs396991 | 0.742 | 0.480 | 1 | 161544752 | missense variant | A/C;G;T | snv | 0.33; 4.1E-06 | 14 | ||
rs1015164 | 0.925 | 3 | 46410189 | intron variant | A/C;G;T | snv | 8 | ||||
rs535915558 | 0.827 | 0.120 | 12 | 55958494 | missense variant | C/T | snv | 2.0E-05 | 6 | ||
rs10929301 | 2 | 233755003 | splice region variant | C/G;T | snv | 0.48 | 4 | ||||
rs11673726 | 2 | 233755414 | non coding transcript exon variant | G/A;T | snv | 4 | |||||
rs10041590 | 5 | 24064827 | intron variant | T/C;G | snv | 2 | |||||
rs10892961 | 11 | 123093392 | intron variant | A/C;G;T | snv | 2 | |||||
rs11228672 | 11 | 56597931 | non coding transcript exon variant | G/A;C | snv | 2 | |||||
rs1461494 | 11 | 123055777 | downstream gene variant | T/A;C | snv | 2 | |||||
rs16893073 | 5 | 24072508 | intron variant | C/G;T | snv | 2 | |||||
rs17062789 | 8 | 1203198 | intron variant | G/A;C | snv | 2 | |||||
rs2243191 | 1.000 | 0.040 | 1 | 206842612 | missense variant | T/C;G | snv | 0.71; 5.5E-06 | 2 | ||
rs34003842 | 8 | 1206131 | intron variant | G/A;C;T | snv | 2 | |||||
rs4435343 | 18 | 43322011 | intergenic variant | C/A;T | snv | 2 | |||||
rs4802 | 11 | 123057914 | synonymous variant | A/C;G | snv | 4.1E-06; 0.32 | 2 |