Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs7335046 | 0.807 | 0.040 | 13 | 99389484 | downstream gene variant | G/C | snv | 0.80 | 7 | ||
rs401618 | 0.827 | 0.120 | 6 | 29982433 | downstream gene variant | A/G;T | snv | 5 | |||
rs6475552 | 1.000 | 0.040 | 9 | 21701675 | downstream gene variant | G/A;T | snv | 1 | |||
rs6673928 | 1.000 | 0.040 | 1 | 206763900 | downstream gene variant | G/T | snv | 0.20 | 1 | ||
rs7848524 | 1.000 | 0.040 | 9 | 21701433 | downstream gene variant | T/A;C;G | snv | 1 | |||
rs1800629 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 169 | |
rs361525 | 0.562 | 0.760 | 6 | 31575324 | upstream gene variant | G/A | snv | 4.6E-02 | 62 | ||
rs3834129 | 0.627 | 0.560 | 2 | 201232809 | upstream gene variant | AGTAAG/- | del | 0.48 | 38 | ||
rs4950928 | 0.653 | 0.560 | 1 | 203186754 | upstream gene variant | G/A;C;T | snv | 33 | |||
rs36115365 | 0.807 | 0.160 | 5 | 1313127 | upstream gene variant | G/A;C;T | snv | 7 | |||
rs4785752 | 1.000 | 0.040 | 16 | 89968733 | upstream gene variant | A/G | snv | 0.42 | 2 | ||
rs2127675 | 1.000 | 0.040 | 6 | 32883073 | upstream gene variant | A/G | snv | 0.36 | 1 | ||
rs7033503 | 1.000 | 0.040 | 9 | 21799599 | upstream gene variant | T/C;G | snv | 1 | |||
rs721970 | 1.000 | 0.040 | 20 | 33315727 | upstream gene variant | A/G | snv | 0.96 | 1 | ||
rs121913685 | 0.882 | 0.080 | 4 | 54727443 | inframe deletion | TTGTTG/-;TTG | delins | 4 | |||
rs121913226 | 1.000 | 0.040 | 7 | 140753332 | inframe deletion | TTT/- | del | 1 | |||
rs121913416 | 1.000 | 0.040 | 3 | 41224575 | inframe deletion | TTAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG/- | delins | 1 | |||
rs121913417 | 1.000 | 0.040 | 3 | 41224583 | inframe deletion | GGCAGCAACAGTCTTACCTGGACT/- | delins | 1 | |||
rs2228570 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 99 | ||
rs10735810 | 0.662 | 0.640 | 12 | 47879112 | start lost | A/C;G;T | snv | 26 | |||
rs193922219 | 0.763 | 0.280 | 15 | 48446701 | splice region variant | C/A;T | snv | 9 | |||
rs5759167 | 0.851 | 0.160 | 22 | 43104206 | TF binding site variant | G/T | snv | 0.40 | 4 | ||
rs11263498 | 1.000 | 0.040 | 11 | 69567999 | TF binding site variant | T/C | snv | 0.51 | 1 | ||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs555607708 | 0.667 | 0.360 | 22 | 28695869 | frameshift variant | G/- | del | 2.0E-03 | 1.8E-03 | 33 |