Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1799889 | 0.649 | 0.600 | 7 | 101126430 | upstream gene variant | A/G | snv | 31 | |||
rs4851527 | 0.790 | 0.160 | 2 | 102005914 | intron variant | A/G | snv | 0.63 | 7 | ||
rs719250 | 0.827 | 0.200 | 2 | 102007256 | intron variant | C/T | snv | 0.11 | 5 | ||
rs2072472 | 0.732 | 0.200 | 2 | 102026557 | intron variant | A/G | snv | 0.24 | 13 | ||
rs199983 | 1.000 | 0.040 | 6 | 104412396 | intergenic variant | A/G | snv | 0.52 | 1 | ||
rs157928 | 1.000 | 0.040 | 7 | 130896599 | intron variant | T/C | snv | 0.29 | 1 | ||
rs4539 | 0.925 | 0.080 | 8 | 142915123 | missense variant | T/C | snv | 0.42 | 0.38 | 4 | |
rs6194 | 1.000 | 0.040 | 5 | 143298796 | synonymous variant | G/A | snv | 8.4E-03 | 3.9E-03 | 1 | |
rs6188 | 1.000 | 0.040 | 5 | 143300779 | intron variant | C/A | snv | 0.26 | 0.29 | 1 | |
rs33388 | 0.776 | 0.360 | 5 | 143317730 | intron variant | A/T | snv | 0.53 | 12 | ||
rs2918417 | 1.000 | 0.040 | 5 | 143346605 | intron variant | C/T | snv | 0.29 | 1 | ||
rs41423247 | 0.695 | 0.440 | 5 | 143399010 | intron variant | G/C | snv | 0.31 | 23 | ||
rs4634384 | 1.000 | 0.040 | 5 | 143401132 | intron variant | C/T | snv | 0.52 | 1 | ||
rs10052957 | 0.851 | 0.160 | 5 | 143407136 | non coding transcript exon variant | G/A | snv | 0.28 | 4 | ||
rs5522 | 0.732 | 0.320 | 4 | 148436323 | missense variant | C/T | snv | 0.88 | 0.89 | 19 | |
rs2070951 | 0.776 | 0.320 | 4 | 148436862 | splice region variant | G/A;C | snv | 4.2E-06; 0.53 | 9 | ||
rs1042713 | 0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 | 63 | |
rs1042714 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 54 | ||
rs1042718 | 0.925 | 0.080 | 5 | 148827354 | missense variant | C/A;T | snv | 0.23; 4.0E-06 | 3 | ||
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
rs699 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 134 | |
rs480902 | 0.882 | 0.200 | 1 | 231395881 | intron variant | T/C | snv | 0.64 | 3 | ||
rs2227956 | 0.752 | 0.400 | 6 | 31810495 | missense variant | G/A;C;T | snv | 0.87 | 12 | ||
rs1008438 | 0.807 | 0.120 | 6 | 31815431 | upstream gene variant | A/C;T | snv | 6 | |||
rs1043618 | 0.752 | 0.280 | 6 | 31815730 | 5 prime UTR variant | G/A;C;T | snv | 0.39; 2.0E-05; 4.0E-06 | 10 |