Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2933353 | 1.000 | 0.040 | 12 | 40464141 | non coding transcript exon variant | A/C | snv | 0.76 | 0.70 | 1 | |
rs4855873 | 1.000 | 0.040 | 3 | 49421681 | non coding transcript exon variant | A/C | snv | 0.43 | 1 | ||
rs7186163 | 1.000 | 0.040 | 16 | 50652646 | downstream gene variant | A/C | snv | 0.63 | 1 | ||
rs919766 | 1.000 | 0.040 | 5 | 159320556 | intron variant | A/C | snv | 0.12 | 0.14 | 1 | |
rs1801274 | 0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 | 46 | ||
rs12720356 | 0.752 | 0.360 | 19 | 10359299 | missense variant | A/C;G | snv | 6.1E-02; 4.0E-06 | 12 | ||
rs16910526 | 0.742 | 0.280 | 12 | 10118488 | stop gained | A/C;G | snv | 6.2E-02 | 12 | ||
rs1893592 | 0.742 | 0.280 | 21 | 42434957 | missense variant | A/C;G | snv | 0.27; 8.0E-06 | 12 | ||
rs3751143 | 0.742 | 0.480 | 12 | 121184501 | missense variant | A/C;G | snv | 0.19; 4.0E-06 | 12 | ||
rs280519 | 0.752 | 0.320 | 19 | 10362257 | splice region variant | A/C;G | snv | 0.50 | 10 | ||
rs714830 | 0.827 | 0.120 | 6 | 20624151 | intron variant | A/C;G | snv | 0.13 | 5 | ||
rs7195296 | 0.827 | 0.120 | 16 | 11655918 | intergenic variant | A/C;G | snv | 5 | |||
rs200711300 | 0.925 | 0.040 | 18 | 12802118 | missense variant | A/C;G | snv | 1.6E-04; 4.0E-06 | 3 | ||
rs527892258 | 0.925 | 0.040 | 16 | 50723350 | missense variant | A/C;G | snv | 1.7E-04; 4.4E-05 | 3 | ||
rs7076156 | 0.925 | 0.120 | 10 | 62655424 | missense variant | A/C;G | snv | 0.80 | 3 | ||
rs10051722 | 1.000 | 0.040 | 5 | 130768383 | intron variant | A/C;G | snv | 2 | |||
rs2302759 | 1.000 | 0.040 | 16 | 50793690 | intron variant | A/C;G | snv | 4.0E-06; 0.79 | 2 | ||
rs104895429 | 1.000 | 0.040 | 16 | 50711152 | missense variant | A/C;G | snv | 4.0E-06; 7.2E-05 | 1 | ||
rs10512734 | 1.000 | 0.040 | 5 | 40393503 | intergenic variant | A/C;G | snv | 0.29 | 1 | ||
rs11871801 | 1.000 | 0.040 | 17 | 42418754 | intron variant | A/C;G | snv | 1 | |||
rs1199103 | 1.000 | 0.040 | 10 | 58187470 | downstream gene variant | A/C;G | snv | 1 | |||
rs145566594 | 1.000 | 0.040 | 3 | 12416950 | missense variant | A/C;G | snv | 4.0E-06 | 1 | ||
rs394522 | 1.000 | 0.040 | 6 | 166984583 | intron variant | A/C;G | snv | 1 | |||
rs740495 | 1.000 | 0.040 | 19 | 1124836 | intron variant | A/C;G | snv | 1 | |||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 |