Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1183027238 | 1.000 | 0.080 | 13 | 113118480 | synonymous variant | C/T | snv | 1 | |||
rs1201493098 | 1.000 | 0.080 | 17 | 4934295 | missense variant | A/G | snv | 4.0E-06 | 1.4E-05 | 1 | |
rs1217035505 | 1.000 | 0.080 | 12 | 121184674 | missense variant | G/A | snv | 1 | |||
rs12375498 | 1.000 | 0.080 | 9 | 116187719 | synonymous variant | C/T | snv | 0.19 | 0.17 | 1 | |
rs1416421760 | 1.000 | 0.080 | 18 | 22168362 | non coding transcript exon variant | C/A | snv | 1.4E-05 | 1 | ||
rs1445501474 | 1.000 | 0.080 | 18 | 22168521 | intron variant | G/T | snv | 1.4E-05 | 1 | ||
rs200478651 | 1.000 | 0.080 | 13 | 113118414 | splice region variant | C/A;T | snv | 8.4E-06; 2.1E-05 | 1 | ||
rs2804924 | 1.000 | 0.080 | 6 | 13574110 | upstream gene variant | G/A;C;T | snv | 1 | |||
rs754889760 | 1.000 | 0.080 | 22 | 50571440 | missense variant | T/C | snv | 4.0E-06 | 1 | ||
rs760761240 | 1.000 | 0.080 | 17 | 34256290 | missense variant | G/A;C | snv | 6.0E-05 | 1 | ||
rs766816990 | 1.000 | 0.080 | 17 | 3691667 | missense variant | C/A;T | snv | 4.0E-06; 1.2E-05 | 1 | ||
rs775913429 | 1.000 | 0.080 | 12 | 132620455 | missense variant | G/A | snv | 8.0E-06 | 1.4E-05 | 1 | |
rs9978223 | 1.000 | 0.080 | 21 | 33398052 | upstream gene variant | G/A | snv | 0.24 | 1 | ||
rs1122608 | 0.763 | 0.120 | 19 | 11052925 | intron variant | G/T | snv | 0.18 | 16 | ||
rs1613662 | 0.851 | 0.120 | 19 | 55025227 | missense variant | G/A | snv | 0.85 | 0.83 | 8 | |
rs199473244 | 0.851 | 0.120 | 3 | 38557251 | missense variant | C/A | snv | 4 | |||
rs3745601 | 0.882 | 0.120 | 19 | 10113872 | missense variant | G/A | snv | 0.16 | 0.13 | 3 | |
rs1226052130 | 0.925 | 0.120 | 17 | 47299308 | missense variant | G/A | snv | 4.0E-06 | 2 | ||
rs13290387 | 0.925 | 0.120 | 9 | 116227647 | intron variant | G/C | snv | 0.54 | 2 | ||
rs3798220 | 0.732 | 0.160 | 6 | 160540105 | missense variant | T/C | snv | 5.6E-02 | 3.1E-02 | 16 | |
rs1255283120 | 0.807 | 0.160 | 1 | 11792345 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 7 | |
rs1764391 | 0.790 | 0.160 | 1 | 34795168 | missense variant | C/G;T | snv | 0.30 | 7 | ||
rs146052672 | 0.851 | 0.160 | 6 | 34242693 | intron variant | -/C | delins | 5 | |||
rs225015 | 0.882 | 0.160 | 14 | 80201236 | 3 prime UTR variant | G/A | snv | 0.37 | 5 | ||
rs770572030 | 0.827 | 0.160 | 18 | 49581427 | missense variant | T/A;C | snv | 4.0E-06; 4.0E-06 | 5 |