Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs759834365 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 237 | ||
rs56149945 | 0.595 | 0.680 | 5 | 143399752 | missense variant | T/A;C | snv | 2.0E-02 | 49 | ||
rs16139 | 0.658 | 0.560 | 7 | 24285260 | missense variant | T/A;C | snv | 4.0E-06; 3.0E-02 | 36 | ||
rs746682028 | 0.645 | 0.480 | 11 | 27658414 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 36 | ||
rs35761398 | 0.701 | 0.520 | 1 | 23875429 | missense variant | TT/CC | mnv | 19 | |||
rs2501432 | 0.716 | 0.480 | 1 | 23875430 | missense variant | T/C;G | snv | 0.62 | 16 | ||
rs879761216 | 0.732 | 0.480 | 1 | 23875429 | frameshift variant | TT/C;T | delins | 14 | |||
rs6189 | 0.827 | 0.240 | 5 | 143400774 | missense variant | C/A;T | snv | 4.0E-06; 1.8E-02 | 6 | ||
rs375382379 | 0.882 | 0.160 | 5 | 143399792 | missense variant | T/C | snv | 4.0E-06 | 5 | ||
rs752834812 | 0.882 | 0.160 | 5 | 143399885 | missense variant | T/C | snv | 8.0E-06 | 5 | ||
rs772651364 | 0.882 | 0.160 | 5 | 143400050 | missense variant | C/T | snv | 4.0E-06 | 5 | ||
rs495225 | 0.882 | 0.040 | 3 | 172448243 | synonymous variant | G/A;C;T | snv | 0.66 | 4 | ||
rs12149074 | 1.000 | 0.040 | 16 | 80071969 | intron variant | C/A;G | snv | 3 | |||
rs4148087 | 1.000 | 0.040 | 21 | 42202157 | intron variant | G/A;T | snv | 3 | |||
rs1356639869 | 1.000 | 0.040 | 7 | 24289527 | missense variant | C/A | snv | 2 | |||
rs7322916 | 13 | 25433839 | intron variant | G/A;C | snv | 2 | |||||
rs550659379 | 0.882 | 0.160 | 5 | 143399780 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 5 | |
rs554073050 | 0.925 | 0.040 | 3 | 42263460 | synonymous variant | G/A | snv | 1.2E-05 | 7.0E-06 | 3 | |
rs61754648 | 2 | 239090026 | missense variant | C/T | snv | 1.4E-03 | 1.8E-03 | 1 | |||
rs138206701 | 5 | 81110747 | intron variant | A/G | snv | 1.7E-02 | 2 | ||||
rs74566133 | 8 | 133766099 | regulatory region variant | C/T | snv | 2.6E-02 | 2 | ||||
rs6198 | 0.724 | 0.480 | 5 | 143278056 | 3 prime UTR variant | T/C | snv | 0.12 | 16 | ||
rs17536211 | 1.000 | 0.040 | 4 | 46085716 | intron variant | A/C | snv | 0.14 | 3 | ||
rs6265 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 272 | |
rs4854912 | 1.000 | 0.040 | 3 | 181063312 | intron variant | C/T | snv | 0.15 | 3 |