Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs142836504 | 1.000 | 0.120 | 4 | 101098491 | missense variant | C/T | snv | 2.4E-04 | 8.4E-05 | 1 | |
rs989461497 | 1.000 | 0.120 | 10 | 101799396 | missense variant | C/T | snv | 7.0E-06 | 1 | ||
rs1284806277 | 0.827 | 0.200 | 14 | 102251978 | missense variant | A/G | snv | 1.4E-05 | 13 | ||
rs9420907 | 0.790 | 0.320 | 10 | 103916707 | intron variant | C/A;G | snv | 7 | |||
rs1130233 | 0.742 | 0.480 | 14 | 104773557 | synonymous variant | C/T | snv | 0.30 | 0.23 | 13 | |
rs1315916121 | 1.000 | 0.120 | 14 | 105168390 | frameshift variant | G/- | delins | 1 | |||
rs1228616597 | 1.000 | 0.120 | 14 | 105168394 | frameshift variant | A/- | delins | 1 | |||
rs12688220 | 0.827 | 0.200 | X | 107001537 | upstream gene variant | C/T | snv | 0.19 | 5 | ||
rs1561927 | 0.807 | 0.280 | 8 | 128555832 | intron variant | C/T | snv | 0.65 | 6 | ||
rs2736100 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 83 | ||
rs401681 | 0.620 | 0.640 | 5 | 1321972 | intron variant | C/T | snv | 0.48 | 42 | ||
rs1374154597 | 1.000 | 0.120 | 3 | 136023097 | frameshift variant | -/G | delins | 2 | |||
rs10273639 | 0.776 | 0.280 | 7 | 142749077 | upstream gene variant | T/A;C | snv | 9 | |||
rs34309238 | 1.000 | 0.120 | 19 | 14464085 | missense variant | C/A;T | snv | 4.9E-03; 4.0E-06 | 1 | ||
rs7779540 | 1.000 | 0.120 | 7 | 153925577 | intron variant | G/A | snv | 6.7E-02 | 1 | ||
rs191544901 | 0.925 | 0.240 | 1 | 155187241 | missense variant | C/A;T | snv | 4.0E-06; 8.0E-06 | 2 | ||
rs763861742 | 0.925 | 0.240 | 1 | 155187268 | missense variant | C/G;T | snv | 1.2E-05 | 2 | ||
rs1037189404 | 0.776 | 0.280 | 1 | 155187519 | missense variant | C/T | snv | 8 | |||
rs766333007 | 0.776 | 0.280 | 1 | 155192274 | missense variant | C/T | snv | 7.0E-06 | 8 | ||
rs7675998 | 0.827 | 0.360 | 4 | 163086668 | intergenic variant | A/G;T | snv | 5 | |||
rs6136 | 0.752 | 0.440 | 1 | 169594713 | missense variant | T/G | snv | 8.2E-02 | 7.5E-02 | 17 | |
rs10936599 | 0.637 | 0.600 | 3 | 169774313 | synonymous variant | C/T | snv | 0.29 | 0.21 | 32 | |
rs767494439 | 1.000 | 0.120 | 22 | 17191686 | missense variant | T/C | snv | 2.4E-05 | 1 | ||
rs866832054 | 1.000 | 0.120 | 5 | 179820971 | missense variant | G/A | snv | 1 | |||
rs9854771 | 0.925 | 0.240 | 3 | 189790682 | intron variant | G/A | snv | 0.34 | 2 |