Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs560890523 | 1.000 | 0.080 | 12 | 25205729 | 3 prime UTR variant | TT/-;T | delins | 3 | |||
rs587782359 | 1.000 | 0.080 | 16 | 68812244 | missense variant | C/G;T | snv | 2.8E-05 | 3 | ||
rs141613848 | 0.925 | 0.080 | 17 | 74768481 | missense variant | A/T | snv | 1.0E-03 | 1.2E-03 | 4 | |
rs376066276 | 0.925 | 0.080 | 11 | 4390219 | missense variant | C/A;T | snv | 4.0E-06; 8.0E-06 | 4 | ||
rs8371 | 0.925 | 0.120 | X | 123912065 | 3 prime UTR variant | C/T | snv | 0.25 | 0.19 | 4 | |
rs868257011 | 0.925 | 0.080 | 10 | 87961042 | frameshift variant | TACTT/- | del | 4 | |||
rs9856 | 0.925 | 0.120 | X | 123911791 | 3 prime UTR variant | C/T | snv | 0.57 | 4 | ||
rs1064793929 | 0.882 | 0.280 | 17 | 7675167 | frameshift variant | A/-;AA | delins | 5 | |||
rs1114167628 | 0.925 | 0.080 | 10 | 87961033 | stop gained | -/ATATCTAG | delins | 5 | |||
rs1329032366 | 0.882 | 0.080 | 4 | 94654530 | missense variant | A/G | snv | 4.0E-06 | 5 | ||
rs374733251 | 0.882 | 0.080 | 7 | 116740993 | missense variant | A/G | snv | 6.0E-05 | 7.7E-05 | 5 | |
rs377444977 | 0.882 | 0.080 | 7 | 55143443 | missense variant | G/A | snv | 5.2E-05 | 2.1E-05 | 5 | |
rs1057519788 | 0.925 | 0.080 | 6 | 117317184 | missense variant | C/T | snv | 6 | |||
rs1332018 | 0.882 | 0.200 | 1 | 109740350 | 5 prime UTR variant | G/T | snv | 0.64 | 0.66 | 6 | |
rs2289030 | 0.882 | 0.120 | 12 | 94834510 | non coding transcript exon variant | G/C | snv | 9.7E-02 | 6.3E-02 | 6 | |
rs3130 | 0.882 | 0.080 | 4 | 15968315 | 3 prime UTR variant | T/A;C | snv | 6 | |||
rs751295137 | 0.851 | 0.160 | 7 | 55152582 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 6 | |
rs760101437 | 0.851 | 0.160 | 7 | 55154018 | missense variant | G/A | snv | 3.2E-05 | 1.4E-05 | 6 | |
rs78768932 | 0.882 | 0.080 | 12 | 120222977 | missense variant | C/G;T | snv | 5.4E-03 | 5.4E-03 | 6 | |
rs12918952 | 0.851 | 0.120 | 16 | 78386878 | missense variant | G/A;C;T | snv | 7 | |||
rs4024 | 0.827 | 0.120 | 4 | 73435667 | intron variant | G/A | snv | 0.52 | 7 | ||
rs737241 | 0.827 | 0.120 | 4 | 73451012 | intron variant | G/A;C | snv | 7 | |||
rs1057519906 | 0.882 | 0.120 | 15 | 90088607 | missense variant | T/A;C | snv | 8 | |||
rs3021094 | 0.827 | 0.360 | 1 | 206771607 | intron variant | T/G | snv | 8.0E-02 | 8 | ||
rs4769793 | 0.807 | 0.120 | 13 | 29985289 | intergenic variant | G/C | snv | 8 |