Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2695165 | 15 | 41781199 | intron variant | C/T | snv | 1.00 | 0.42 | 1 | |||
rs10283100 | 8 | 119583783 | missense variant | A/G;T | snv | 0.96 | 3 | ||||
rs2999158 | 1 | 112696856 | intron variant | T/C | snv | 0.73 | 0.74 | 1 | |||
rs7571971 | 1.000 | 0.120 | 2 | 88595833 | non coding transcript exon variant | T/C | snv | 0.70 | 0.77 | 2 | |
rs4809221 | 20 | 63741353 | non coding transcript exon variant | G/A;C;T | snv | 0.69; 3.2E-05 | 2 | ||||
rs7198383 | 16 | 8569748 | 3 prime UTR variant | C/G;T | snv | 7.1E-06; 0.69 | 1 | ||||
rs2571445 | 0.925 | 0.080 | 2 | 217818431 | missense variant | A/G;T | snv | 0.62 | 8 | ||
rs10870202 | 9 | 136362959 | intron variant | T/C | snv | 0.48 | 0.48 | 1 | |||
rs2057388 | 1 | 186122944 | splice region variant | A/C;T | snv | 0.47; 4.0E-06 | 1 | ||||
rs761422 | 1 | 16975285 | synonymous variant | A/G | snv | 0.45 | 0.46 | 1 | |||
rs6595440 | 5 | 123383042 | missense variant | G/A;C | snv | 0.42 | 1 | ||||
rs886444 | 17 | 47974545 | non coding transcript exon variant | G/A | snv | 0.34 | 0.35 | 1 | |||
rs17855177 | 2 | 48375113 | synonymous variant | C/T | snv | 0.29 | 0.27 | 1 | |||
rs3764002 | 1.000 | 0.080 | 12 | 108224853 | missense variant | C/T | snv | 0.27 | 0.20 | 3 | |
rs1801144 | 11 | 62614336 | missense variant | G/A;C | snv | 2.0E-05; 0.26 | 1 | ||||
rs71490394 | 11 | 62602683 | missense variant | G/A | snv | 0.26 | 0.26 | 3 | |||
rs2274116 | 9 | 136202959 | synonymous variant | C/G;T | snv | 7.9E-06; 0.25 | 2 | ||||
rs12141189 | 1 | 220880203 | missense variant | T/C | snv | 0.24 | 0.23 | 1 | |||
rs12684650 | 9 | 136218808 | splice region variant | C/T | snv | 0.24 | 0.22 | 1 | |||
rs3751837 | 16 | 3533173 | 3 prime UTR variant | C/A;T | snv | 0.22 | 0.23 | 3 | |||
rs2290846 | 1.000 | 0.040 | 4 | 150277928 | missense variant | G/A | snv | 0.20 | 0.18 | 2 | |
rs34712979 | 1.000 | 0.040 | 4 | 105897896 | splice region variant | G/A;T | snv | 0.17 | 5 | ||
rs2241058 | 2 | 72134736 | intron variant | C/A;G;T | snv | 0.16; 4.3E-06; 4.3E-06 | 1 | ||||
rs2292305 | 0.882 | 0.080 | 15 | 39588621 | missense variant | A/C;G | snv | 4.0E-06; 0.16 | 1 | ||
rs34811474 | 1.000 | 0.040 | 4 | 25407216 | missense variant | G/A;T | snv | 0.15; 4.1E-06 | 8 |