Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1800562 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 262 | |
rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 | ||
rs1799945 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 226 | |
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs878854066 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 213 | |||
rs25487 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 205 | |
rs1799782 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 151 | |
rs1052133 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 147 | |
rs25489 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 78 | ||
rs1130409 | 0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 | 72 | ||
rs121912438 | 0.605 | 0.520 | 21 | 31667299 | missense variant | G/A;C;T | snv | 1.2E-05; 8.0E-06 | 58 | ||
rs75932628 | 0.662 | 0.480 | 6 | 41161514 | missense variant | C/A;T | snv | 6.8E-05; 2.6E-03 | 28 | ||
rs80265967 | 0.732 | 0.200 | 21 | 31667290 | missense variant | A/C;T | snv | 1.4E-03 | 1.2E-03 | 16 | |
rs74315452 | 0.732 | 0.160 | 21 | 31667356 | missense variant | T/C | snv | 12 | |||
rs587781858 | 0.742 | 0.360 | 17 | 7669671 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 12 | ||
rs3849942 | 0.776 | 0.200 | 9 | 27543283 | non coding transcript exon variant | T/A;C | snv | 9 | |||
rs363371 | 0.882 | 0.120 | 10 | 117226885 | TF binding site variant | G/A | snv | 0.19 | 5 | ||
rs3849943 | 0.827 | 0.080 | 9 | 27543384 | non coding transcript exon variant | C/G;T | snv | 5 | |||
rs2412208 | 0.827 | 0.080 | 1 | 7032722 | intron variant | T/G | snv | 0.33 | 5 | ||
rs139550538 | 0.827 | 0.080 | 10 | 92524312 | intron variant | T/A | snv | 1.9E-02 | 5 | ||
rs34517613 | 0.827 | 0.080 | 17 | 28283226 | intron variant | C/T | snv | 9.1E-02 | 5 | ||
rs616147 | 0.827 | 0.080 | 3 | 39492990 | intron variant | A/G | snv | 0.76 | 5 | ||
rs35714695 | 0.827 | 0.080 | 17 | 28392769 | intron variant | G/A;T | snv | 0.12 | 5 | ||
rs774994509 | 0.851 | 0.080 | 21 | 31667296 | missense variant | A/G | snv | 4.0E-06 | 5 | ||
rs12608932 | 0.827 | 0.080 | 19 | 17641880 | intron variant | A/C | snv | 0.36 | 5 |