Source: BEFREE
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1501299 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 52 | |||
| rs2241766 | 0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 | 48 | ||
| rs266729 | 0.637 | 0.560 | 3 | 186841685 | upstream gene variant | C/A;G;T | snv | 37 | |||
| rs182052 | 0.701 | 0.440 | 3 | 186842993 | intron variant | G/A | snv | 0.38 | 18 | ||
| rs822396 | 0.732 | 0.400 | 3 | 186849088 | intron variant | G/A | snv | 0.81 | 16 | ||
| rs17300539 | 0.752 | 0.320 | 3 | 186841671 | upstream gene variant | G/A | snv | 5.3E-02 | 11 | ||
| rs185847354 | 0.763 | 0.160 | 3 | 186854460 | missense variant | T/C | snv | 3.1E-04 | 7.0E-05 | 11 | |
| rs822395 | 0.776 | 0.240 | 3 | 186849018 | intron variant | C/A;G | snv | 10 | |||
| rs2082940 | 0.763 | 0.480 | 3 | 186856375 | 3 prime UTR variant | T/A;C | snv | 10 | |||
| rs3774261 | 0.776 | 0.320 | 3 | 186853770 | splice region variant | A/G | snv | 0.55 | 10 | ||
| rs2241767 | 0.763 | 0.440 | 3 | 186853407 | intron variant | A/G | snv | 0.10 | 9 | ||
| rs17366743 | 0.807 | 0.280 | 3 | 186854300 | missense variant | T/C | snv | 2.2E-02 | 2.1E-02 | 7 | |
| rs1063537 | 0.807 | 0.320 | 3 | 186856286 | 3 prime UTR variant | C/T | snv | 9.6E-02 | 6 | ||
| rs1063539 | 0.827 | 0.360 | 3 | 186857603 | 3 prime UTR variant | G/A;C | snv | 0.10 | 5 | ||
| rs17366568 | 0.851 | 0.200 | 3 | 186852664 | non coding transcript exon variant | G/A | snv | 8.8E-02 | 5 | ||
| rs1063538 | 1.000 | 0.080 | 3 | 186856394 | 3 prime UTR variant | T/C | snv | 0.55 | 4 | ||
| rs7649121 | 0.882 | 0.160 | 3 | 186850996 | intron variant | A/T | snv | 0.17 | 3 | ||
| rs822393 | 0.882 | 0.160 | 3 | 186848537 | intron variant | C/T | snv | 0.30 | 3 | ||
| rs16861194 | 0.925 | 0.120 | 3 | 186841636 | upstream gene variant | A/G | snv | 0.15 | 2 | ||
| rs121917815 | 0.925 | 0.120 | 3 | 186854303 | missense variant | C/T | snv | 4.0E-06; 1.2E-05 | 2 | ||
| rs138773406 | 1.000 | 0.080 | 3 | 186854630 | missense variant | C/A;T | snv | 2.1E-04; 8.0E-06 | 1 | ||
| rs141205818 | 1.000 | 0.080 | 3 | 186854691 | missense variant | A/C | snv | 3.9E-04 | 1.8E-04 | 1 | |
| rs747223144 | 1.000 | 0.080 | 3 | 186854318 | missense variant | G/A | snv | 4.0E-06 | 1 |