Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs587776802 | 1.000 | 0.080 | 3 | 179234358 | frameshift variant | -/A | delins | 2 | |||
rs9838411 | 0.925 | 0.080 | 3 | 179169899 | intron variant | G/A | snv | 0.25 | 2 | ||
rs1057519930 | 1.000 | 0.080 | 3 | 179199142 | missense variant | G/T | snv | 1 | |||
rs12494623 | 1.000 | 0.080 | 3 | 179214763 | intron variant | C/G;T | snv | 1 | |||
rs1553826166 | 1.000 | 0.080 | 3 | 179234231 | missense variant | C/G | snv | 1 | |||
rs3729679 | 1.000 | 0.080 | 3 | 179204642 | intron variant | A/G | snv | 0.58 | 1 | ||
rs397517200 | 1.000 | 0.080 | 3 | 179210293 | inframe deletion | AGATTTGCTGAACCC/- | del | 1 | |||
rs17849079 | 0.882 | 0.120 | 3 | 179234232 | synonymous variant | C/T | snv | 2.1E-02 | 1.5E-02 | 3 | |
rs3976507 | 0.882 | 0.120 | 3 | 179239995 | 3 prime UTR variant | C/T | snv | 0.19 | 0.24 | 3 | |
rs863225060 | 0.925 | 0.120 | 3 | 179199136 | missense variant | C/T | snv | 2 | |||
rs1560137208 | 1.000 | 0.120 | 3 | 179199073 | missense variant | T/C | snv | 1 | |||
rs767439253 | 1.000 | 0.120 | 3 | 179199885 | missense variant | A/G | snv | 1.1E-04 | 1.4E-05 | 1 | |
rs121913284 | 0.776 | 0.160 | 3 | 179203765 | missense variant | T/A;G | snv | 11 | |||
rs1057519938 | 0.776 | 0.160 | 3 | 179203764 | missense variant | A/C;T | snv | 10 | |||
rs1057519939 | 0.776 | 0.160 | 3 | 179203763 | missense variant | A/C | snv | 10 | |||
rs17849071 | 0.776 | 0.160 | 3 | 179218439 | intron variant | T/G | snv | 7.9E-02 | 8 | ||
rs749415085 | 0.807 | 0.160 | 3 | 179198937 | missense variant | C/A;G;T | snv | 7 | |||
rs772110575 | 0.807 | 0.160 | 3 | 179198938 | missense variant | G/A;T | snv | 4.0E-06 | 7 | ||
rs1057519931 | 0.827 | 0.160 | 3 | 179199141 | missense variant | G/C | snv | 6 | |||
rs1057519940 | 0.752 | 0.200 | 3 | 179218308 | missense variant | G/T | snv | 13 | |||
rs1057519936 | 0.776 | 0.200 | 3 | 179234284 | missense variant | A/G;T | snv | 11 | |||
rs1057519937 | 0.776 | 0.200 | 3 | 179234285 | missense variant | T/C | snv | 11 | |||
rs1057519926 | 0.776 | 0.200 | 3 | 179210293 | missense variant | A/T | snv | 10 | |||
rs1057519928 | 0.807 | 0.200 | 3 | 179221147 | missense variant | A/C | snv | 8 | |||
rs6443624 | 0.776 | 0.200 | 3 | 179179886 | intron variant | C/A | snv | 0.30 | 8 |