Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1567608853 | 0.925 | 0.160 | 16 | 88646212 | non coding transcript exon variant | G/C | snv | 6 | |||
rs147080557 | 0.882 | 0.120 | 19 | 53810777 | missense variant | G/A;C | snv | 3.6E-05; 4.0E-06 | 6 | ||
rs2072136 | 0.851 | 0.120 | 12 | 112961114 | synonymous variant | G/A;C | snv | 0.31; 4.0E-06 | 6 | ||
rs104895271 | 0.851 | 0.240 | 12 | 6334161 | missense variant | A/C;G | snv | 1.6E-04; 4.8E-05 | 6 | ||
rs1732778 | 0.882 | 0.080 | 12 | 113019120 | upstream gene variant | G/A | snv | 0.22 | 5 | ||
rs1187636039 | 0.925 | 0.120 | 3 | 89341043 | missense variant | C/A | snv | 5 | |||
rs1057518886 | 11 | 119090043 | frameshift variant | C/- | delins | 5 | |||||
rs2232618 | 0.851 | 0.160 | 20 | 38373117 | missense variant | T/C | snv | 9.2E-02 | 0.12 | 5 | |
rs2285932 | 0.851 | 0.120 | 12 | 112949145 | synonymous variant | T/C | snv | 0.76 | 0.78 | 5 | |
rs200956636 | 0.925 | 0.280 | 15 | 55205623 | stop gained | G/A | snv | 6.8E-05 | 6.3E-05 | 5 | |
rs1555889984 | 0.925 | 0.120 | 21 | 34834536 | stop gained | C/A | snv | 5 | |||
rs118192161 | 0.882 | 0.120 | 19 | 38444211 | missense variant | C/T | snv | 5 | |||
rs1800692 | 0.925 | 0.120 | 12 | 6333180 | missense variant | A/G | snv | 0.64 | 0.71 | 5 | |
rs121917748 | 0.882 | 0.120 | 2 | 165308751 | missense variant | C/T | snv | 2.0E-05 | 4 | ||
rs199473229 | 0.882 | 0.120 | 3 | 38560361 | missense variant | A/G | snv | 4 | |||
rs11575933 | 0.925 | 0.080 | 9 | 133436943 | missense variant | C/T | snv | 5.8E-03 | 2.3E-03 | 3 | |
rs7849782 | 0.925 | 0.160 | 9 | 101664982 | intron variant | C/A;G;T | snv | 3 | |||
rs864309530 | 1 | 235806165 | missense variant | G/T | snv | 3 | |||||
rs1057518827 | 1.000 | 0.040 | 1 | 247425248 | missense variant | A/G | snv | 3 | |||
rs199473092 | 0.925 | 0.080 | 3 | 38608175 | missense variant | A/C | snv | 3 | |||
rs199473143 | 0.925 | 0.080 | 3 | 38597949 | missense variant | T/G | snv | 3 | |||
rs11568658 | 0.925 | 0.040 | 13 | 95210754 | missense variant | C/A | snv | 4.9E-02 | 3.0E-02 | 3 | |
rs747753882 | 0.925 | 0.120 | 4 | 38797482 | synonymous variant | A/G | snv | 4.0E-06 | 2.1E-05 | 3 | |
rs876538 | 1 | 159705927 | upstream gene variant | T/A;C | snv | 2 | |||||
rs5743507 | 1.000 | 20 | 38310650 | splice region variant | G/C | snv | 9.4E-02 | 8.6E-02 | 2 |