Source: ALL
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 | |
rs1799945 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 226 | |
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 | |||
rs3849942 | 0.776 | 0.200 | 9 | 27543283 | non coding transcript exon variant | T/A;C | snv | 9 | |||
rs12608932 | 0.827 | 0.080 | 19 | 17641880 | intron variant | A/C | snv | 0.36 | 5 | ||
rs139550538 | 0.827 | 0.080 | 10 | 92524312 | intron variant | T/A | snv | 1.9E-02 | 5 | ||
rs2412208 | 0.827 | 0.080 | 1 | 7032722 | intron variant | T/G | snv | 0.33 | 5 | ||
rs35714695 | 0.827 | 0.080 | 17 | 28392769 | intron variant | G/A;T | snv | 0.12 | 5 | ||
rs3849943 | 0.827 | 0.080 | 9 | 27543384 | non coding transcript exon variant | C/G;T | snv | 5 | |||
rs616147 | 0.827 | 0.080 | 3 | 39492990 | intron variant | A/G | snv | 0.76 | 5 | ||
rs774994509 | 0.851 | 0.080 | 21 | 31667296 | missense variant | A/G | snv | 4.0E-06 | 5 | ||
rs1159805691 | 0.851 | 0.080 | 16 | 1792266 | frameshift variant | T/- | del | 7.0E-06 | 4 | ||
rs2814707 | 0.882 | 0.120 | 9 | 27536399 | non coding transcript exon variant | C/G;T | snv | 4 | |||
rs1541160 | 0.882 | 0.080 | 1 | 170026661 | intron variant | C/A;T | snv | 3 | |||
rs8141797 | 0.882 | 0.120 | 22 | 24186073 | missense variant | A/G | snv | 8.1E-02 | 9.8E-02 | 3 | |
rs10260404 | 0.925 | 0.080 | 7 | 154513713 | intron variant | T/C | snv | 0.35 | 2 | ||
rs2070872 | 0.925 | 0.080 | 17 | 81846845 | intron variant | A/G | snv | 0.26 | 2 | ||
rs567432143 | 0.925 | 0.080 | 21 | 31667346 | missense variant | G/A;T | snv | 2.4E-05 | 7.0E-06 | 2 | |
rs6703183 | 0.925 | 0.080 | 1 | 209539544 | intron variant | T/C | snv | 0.48 | 2 | ||
rs742710 | 0.925 | 0.080 | 20 | 5923382 | missense variant | C/T | snv | 0.11 | 0.12 | 2 | |
rs768029813 | 0.925 | 0.080 | 21 | 31659828 | missense variant | A/G | snv | 8.4E-05 | 4.2E-05 | 2 |