Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1800795 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 140 | ||
rs1800872 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 119 | ||
rs699947 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 67 | |||
rs2069705 | 0.695 | 0.440 | 12 | 68161231 | intron variant | G/A;C | snv | 19 | |||
rs2146323 | 0.752 | 0.480 | 6 | 43777358 | non coding transcript exon variant | C/A | snv | 0.31 | 13 | ||
rs1064797245 | 0.776 | 0.280 | 19 | 41970540 | missense variant | G/A | snv | 12 | |||
rs72554640 | 0.882 | 0.160 | X | 78011239 | stop gained | C/T | snv | 9 | |||
rs1554785242 | 0.882 | 0.160 | 9 | 133426240 | missense variant | G/T | snv | 8 | |||
rs1554791280 | 0.882 | 0.160 | 9 | 133442718 | missense variant | T/C | snv | 8 | |||
rs1567608853 | 0.925 | 0.160 | 16 | 88646212 | non coding transcript exon variant | G/C | snv | 6 | |||
rs1057518886 | 11 | 119090043 | frameshift variant | C/- | delins | 5 | |||||
rs118192161 | 0.882 | 0.120 | 19 | 38444211 | missense variant | C/T | snv | 5 | |||
rs1187636039 | 0.925 | 0.120 | 3 | 89341043 | missense variant | C/A | snv | 5 | |||
rs1555889984 | 0.925 | 0.120 | 21 | 34834536 | stop gained | C/A | snv | 5 | |||
rs1732778 | 0.882 | 0.080 | 12 | 113019120 | upstream gene variant | G/A | snv | 0.22 | 5 | ||
rs199473229 | 0.882 | 0.120 | 3 | 38560361 | missense variant | A/G | snv | 4 | |||
rs1057518827 | 1.000 | 0.040 | 1 | 247425248 | missense variant | A/G | snv | 3 | |||
rs199473092 | 0.925 | 0.080 | 3 | 38608175 | missense variant | A/C | snv | 3 | |||
rs199473143 | 0.925 | 0.080 | 3 | 38597949 | missense variant | T/G | snv | 3 | |||
rs7849782 | 0.925 | 0.160 | 9 | 101664982 | intron variant | C/A;G;T | snv | 3 | |||
rs864309530 | 1 | 235806165 | missense variant | G/T | snv | 3 | |||||
rs1055229 | 1.000 | 0.040 | 2 | 207666959 | non coding transcript exon variant | C/T | snv | 0.26 | 2 | ||
rs12477677 | 1.000 | 0.080 | 2 | 207666398 | intron variant | T/C | snv | 0.22 | 2 | ||
rs12939622 | 1.000 | 0.040 | 17 | 37611503 | 3 prime UTR variant | G/A | snv | 0.42 | 2 | ||
rs4262994 | 1.000 | 0.040 | 17 | 37591398 | intron variant | A/C | snv | 0.17 | 2 |