Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs373646414 | 1.000 | 0.080 | 14 | 95132574 | missense variant | T/C | snv | 1.6E-05 | 5.6E-05 | 2 | |
rs200817352 | 1.000 | 0.080 | 2 | 113220126 | missense variant | G/A;C | snv | 2.0E-03; 4.0E-06 | 2 | ||
rs147394161 | 0.925 | 0.120 | 1 | 21598453 | missense variant | T/C | snv | 9.5E-03 | 1.0E-02 | 2 | |
rs377767414 | 0.925 | 0.080 | 10 | 43118397 | missense variant | G/A | snv | 2 | |||
rs183334241 | 0.925 | 0.080 | 18 | 75288186 | missense variant | G/A;C | snv | 1.6E-04 | 2 | ||
rs78081605 | 0.925 | 0.080 | 18 | 75288051 | missense variant | G/C | snv | 8.0E-06 | 7.0E-06 | 2 | |
rs2145418 | 0.882 | 0.080 | 1 | 118422631 | intergenic variant | C/A | snv | 0.78 | 3 | ||
rs747463591 | 0.882 | 0.080 | 10 | 59906391 | missense variant | C/A;G;T | snv | 4.9E-06; 9.9E-06 | 3 | ||
rs78929565 | 0.882 | 0.080 | 4 | 55539035 | intron variant | C/A;T | snv | 3 | |||
rs1032006770 | 0.882 | 0.080 | 7 | 55160171 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 3 | |
rs538912281 | 0.925 | 0.080 | 9 | 97854657 | missense variant | C/A;G;T | snv | 2.0E-03 | 3 | ||
rs1031583860 | 0.882 | 0.080 | 11 | 58709815 | missense variant | T/C | snv | 3 | |||
rs7037324 | 0.882 | 0.080 | 9 | 97896036 | regulatory region variant | A/G | snv | 0.71 | 3 | ||
rs12769288 | 0.882 | 0.080 | 10 | 129488086 | intron variant | C/T | snv | 0.10 | 3 | ||
rs2708896 | 0.882 | 0.080 | 7 | 47955186 | upstream gene variant | T/C;G | snv | 3 | |||
rs1365943053 | 0.882 | 0.080 | 9 | 95516630 | missense variant | C/T | snv | 7.0E-06 | 3 | ||
rs779791579 | 0.882 | 0.080 | 9 | 95508325 | missense variant | G/C | snv | 7.8E-04 | 6.1E-04 | 3 | |
rs377767427 | 0.882 | 0.120 | 10 | 43120114 | missense variant | C/G | snv | 4.0E-06 | 3 | ||
rs180414 | 0.882 | 0.080 | 12 | 46775115 | synonymous variant | A/G | snv | 3.1E-03 | 3 | ||
rs10951937 | 0.882 | 0.080 | 7 | 47992027 | intron variant | A/C | snv | 0.43 | 3 | ||
rs4658973 | 0.882 | 0.080 | 1 | 117956431 | intron variant | T/G | snv | 0.34 | 3 | ||
rs709399 | 0.882 | 0.080 | 14 | 103701208 | 3 prime UTR variant | G/A | snv | 0.59 | 0.61 | 3 | |
rs907580 | 0.851 | 0.080 | 9 | 97860315 | downstream gene variant | T/A;C;G | snv | 4 | |||
rs1443434 | 0.851 | 0.080 | 9 | 97855197 | 3 prime UTR variant | G/T | snv | 0.63 | 4 | ||
rs71369530 | 0.851 | 0.080 | 9 | 97854419 | inframe insertion | GCCGCCGCCGCCGCCGCCGCCGCC/-;GCC;GCCGCC;GCCGCCGCC;GCCGCCGCCGCC;GCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC | delins | 0.68 | 4 |