Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs17337023 | 1.000 | 0.120 | 7 | 55171181 | synonymous variant | T/A;G | snv | 1 | |||
rs201061916 | 1.000 | 0.040 | 7 | 55165388 | missense variant | G/A | snv | 2.0E-05 | 1.4E-05 | 1 | |
rs201498575 | 7 | 55165359 | missense variant | G/A | snv | 4.0E-06 | 1 | ||||
rs2017000 | 1.000 | 0.080 | 7 | 55174916 | intron variant | A/G | snv | 0.24 | 1 | ||
rs371228501 | 1.000 | 0.040 | 7 | 55191740 | missense variant | C/T | snv | 6.8E-05 | 1.2E-04 | 1 | |
rs3752651 | 1.000 | 0.040 | 7 | 55161850 | intron variant | T/C | snv | 0.15 | 1 | ||
rs376822837 | 1.000 | 0.080 | 7 | 55198761 | missense variant | G/A | snv | 3.6E-05 | 6.3E-05 | 1 | |
rs377567759 | 7 | 55160191 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 1 | |||
rs397517086 | 1.000 | 0.080 | 7 | 55173986 | inframe deletion | AAC/- | del | 1 | |||
rs397517094 | 1.000 | 0.080 | 7 | 55174769 | protein altering variant | CAAGGAATTAAGAGAAGC/AAA | delins | 1 | |||
rs397517098 | 1.000 | 0.080 | 7 | 55174777 | inframe deletion | TAAGAGAAG/- | del | 1 | |||
rs397517126 | 1.000 | 0.040 | 7 | 55191746 | missense variant | T/G | snv | 1 | |||
rs397517127 | 1.000 | 0.080 | 7 | 55191749 | missense variant | G/C;T | snv | 1 | |||
rs397517128 | 1.000 | 0.080 | 7 | 55191753 | missense variant | A/T | snv | 1 | |||
rs397517134 | 1.000 | 0.080 | 7 | 55191861 | missense variant | C/G | snv | 1 | |||
rs533525993 | 1.000 | 0.040 | 7 | 55165435 | splice region variant | C/T | snv | 2.4E-04 | 5.6E-05 | 1 | |
rs587777940 | 7 | 55202667 | missense variant | T/G | snv | 7.0E-06 | 1 | ||||
rs606231253 | 1.000 | 7 | 55157738 | missense variant | G/A | snv | 4.0E-06 | 1 | |||
rs6958497 | 1.000 | 0.080 | 7 | 55094053 | intron variant | T/C | snv | 0.14 | 1 | ||
rs6970262 | 1.000 | 0.040 | 7 | 55192070 | intron variant | A/G | snv | 0.66 | 1 | ||
rs729969 | 1.000 | 0.040 | 7 | 55060514 | intron variant | A/G;T | snv | 1 | |||
rs755356995 | 1.000 | 0.040 | 7 | 55173039 | missense variant | T/C | snv | 4.0E-06; 4.0E-06 | 1 | ||
rs758748662 | 1.000 | 0.160 | 7 | 55155911 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 1 | |
rs759106015 | 7 | 55152588 | missense variant | G/A | snv | 3.2E-05 | 1.4E-05 | 1 | |||
rs759165 | 1.000 | 0.080 | 7 | 55049014 | intron variant | G/A | snv | 4.3E-02 | 1 |