Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs533525993 | 1.000 | 0.040 | 7 | 55165435 | splice region variant | C/T | snv | 2.4E-04 | 5.6E-05 | 1 | |
rs17290301 | 1.000 | 0.040 | 7 | 55173189 | intron variant | G/A | snv | 2.0E-02 | 1 | ||
rs775800262 | 1.000 | 0.080 | 7 | 55155894 | missense variant | G/T | snv | 4.0E-06 | 1 | ||
rs764290273 | 1.000 | 0.040 | 7 | 55165394 | missense variant | G/A | snv | 8.0E-06 | 1.4E-05 | 1 | |
rs1171516758 | 1.000 | 0.040 | 7 | 55142377 | synonymous variant | G/A;T | snv | 4.0E-06; 4.0E-06 | 1 | ||
rs201061916 | 1.000 | 0.040 | 7 | 55165388 | missense variant | G/A | snv | 2.0E-05 | 1.4E-05 | 1 | |
rs771398183 | 1.000 | 0.040 | 7 | 55156554 | missense variant | G/T | snv | 4.0E-06 | 1.4E-05 | 1 | |
rs397517126 | 1.000 | 0.040 | 7 | 55191746 | missense variant | T/G | snv | 1 | |||
rs763830096 | 1.000 | 0.120 | 7 | 55157724 | synonymous variant | A/G | snv | 4.0E-06 | 1 | ||
rs12718939 | 1.000 | 0.040 | 7 | 55037627 | intron variant | A/G | snv | 0.75 | 1 | ||
rs771366736 | 1.000 | 0.160 | 7 | 55143380 | missense variant | A/G | snv | 8.0E-06 | 1.4E-05 | 1 | |
rs758748662 | 1.000 | 0.160 | 7 | 55155911 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 1 | |
rs771929085 | 1.000 | 0.160 | 7 | 55155941 | missense variant | G/A | snv | 1.2E-05 | 1 | ||
rs1057519794 | 0.925 | 0.080 | 7 | 55173927 | missense variant | G/A | snv | 1 | |||
rs2017000 | 1.000 | 0.080 | 7 | 55174916 | intron variant | A/G | snv | 0.24 | 1 | ||
rs149248025 | 1.000 | 7 | 55201237 | missense variant | G/A;T | snv | 8.0E-05; 8.0E-06 | 1 | |||
rs1256743514 | 1.000 | 0.040 | 7 | 55191728 | missense variant | T/C | snv | 7.0E-06 | 1 | ||
rs6970262 | 1.000 | 0.040 | 7 | 55192070 | intron variant | A/G | snv | 0.66 | 1 | ||
rs121913430 | 1.000 | 0.080 | 7 | 55174740 | missense variant | G/A | snv | 1 | |||
rs201498575 | 7 | 55165359 | missense variant | G/A | snv | 4.0E-06 | 1 | ||||
rs759106015 | 7 | 55152588 | missense variant | G/A | snv | 3.2E-05 | 1.4E-05 | 1 | |||
rs371228501 | 1.000 | 0.040 | 7 | 55191740 | missense variant | C/T | snv | 6.8E-05 | 1.2E-04 | 1 | |
rs374873413 | 1.000 | 0.080 | 7 | 55181302 | missense variant | G/A;C | snv | 4.0E-05; 8.0E-06 | 1 | ||
rs7795743 | 7 | 55182437 | non coding transcript exon variant | G/A | snv | 0.56 | 1 | ||||
rs483352807 | 7 | 55181402 | missense variant | T/A | snv | 1 |