Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2835931 | 1.000 | 0.120 | 21 | 37749345 | intron variant | C/A;T | snv | 4 | |||
rs3917412 | 1.000 | 0.040 | 1 | 169731361 | intron variant | T/A;C;G | snv | 4 | |||
rs477145 | 1.000 | 0.120 | 21 | 31390097 | intron variant | C/A;T | snv | 4 | |||
rs7240004 | 1.000 | 0.040 | 18 | 48868651 | intergenic variant | A/G | snv | 0.43 | 4 | ||
rs1196644309 | 1.000 | 0.080 | 1 | 145995155 | missense variant | G/A | snv | 3 | |||
rs121913430 | 1.000 | 0.080 | 7 | 55174740 | missense variant | G/A | snv | 3 | |||
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 | ||
rs877610 | 1.000 | 17 | 3572196 | synonymous variant | C/T | snv | 4.6E-02 | 7.5E-02 | 3 | ||
rs1194624468 | 1.000 | 0.040 | 8 | 140700895 | missense variant | A/T | snv | 1.6E-05 | 2 | ||
rs1431090090 | 1.000 | 0.040 | 10 | 31520347 | missense variant | C/A | snv | 4.0E-06 | 2 | ||
rs377767426 | 1.000 | 0.080 | 10 | 43119694 | missense variant | C/G | snv | 1.8E-04 | 1.0E-04 | 2 | |
rs57698689 | 1.000 | 0.080 | 12 | 25205729 | 3 prime UTR variant | TT/-;T | delins | 0.48 | 2 | ||
rs750802459 | 1.000 | 0.120 | 4 | 184635342 | frameshift variant | TCAGGATAATCCATTTTATAACTGTTGTCCAGGGATATTCCAGAGTC/- | delins | 5.6E-05 | 2 | ||
rs752366963 | 1.000 | 20 | 18548646 | missense variant | T/G | snv | 8.0E-06 | 7.0E-06 | 2 | ||
rs1049074086 | 0.925 | 0.120 | 11 | 1759567 | missense variant | A/G | snv | 7.0E-06 | 9 | ||
rs1057519788 | 0.925 | 0.080 | 6 | 117317184 | missense variant | C/T | snv | 6 | |||
rs1114167628 | 0.925 | 0.080 | 10 | 87961033 | stop gained | -/ATATCTAG | delins | 5 | |||
rs1056123575 | 0.925 | 0.080 | 21 | 26844557 | missense variant | G/A | snv | 4.2E-06 | 7.0E-06 | 4 | |
rs1172398253 | 0.925 | 0.080 | 1 | 85582045 | missense variant | C/T | snv | 4.0E-06 | 4 | ||
rs1341667 | 0.925 | 0.040 | 10 | 68882104 | missense variant | T/C | snv | 0.62 | 0.57 | 4 | |
rs141613848 | 0.925 | 0.080 | 17 | 74768481 | missense variant | A/T | snv | 1.0E-03 | 1.2E-03 | 4 | |
rs2069852 | 0.925 | 0.080 | 7 | 22732641 | downstream gene variant | G/A;C | snv | 4 | |||
rs376066276 | 0.925 | 0.080 | 11 | 4390219 | missense variant | C/A;T | snv | 4.0E-06; 8.0E-06 | 4 | ||
rs772893086 | 0.925 | 0.080 | 21 | 45176099 | missense variant | A/C;G;T | snv | 4.0E-06 | 4 |