Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs140743827 | 1.000 | 0.080 | 1 | 165016519 | intergenic variant | G/A | snv | 2.9E-02 | 1 | ||
rs12415421 | 1.000 | 0.080 | 10 | 17391921 | intron variant | C/T | snv | 5.4E-02 | 1 | ||
rs3774262 | 0.851 | 0.200 | 3 | 186854025 | intron variant | G/A | snv | 0.10 | 5 | ||
rs1063537 | 0.807 | 0.320 | 3 | 186856286 | 3 prime UTR variant | C/T | snv | 9.6E-02 | 6 | ||
rs2082940 | 0.763 | 0.480 | 3 | 186856375 | 3 prime UTR variant | T/A;C | snv | 10 | |||
rs4686803 | 1.000 | 0.080 | 3 | 186856550 | 3 prime UTR variant | C/T | snv | 0.10 | 1 | ||
rs11588454 | 1.000 | 0.080 | 1 | 191832003 | intron variant | T/C | snv | 0.33 | 1 | ||
rs116133558 | 1.000 | 0.080 | 1 | 203747715 | downstream gene variant | C/T | snv | 2.7E-02 | 1 | ||
rs1553621496 | 0.677 | 0.440 | 2 | 209976305 | splice donor variant | T/G | snv | 53 | |||
rs11897825 | 1.000 | 0.080 | 2 | 21471579 | intron variant | A/G | snv | 0.54 | 1 | ||
rs1276519904 | 0.645 | 0.520 | 1 | 226071445 | missense variant | A/G | snv | 63 | |||
rs1801278 | 0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 | 38 | ||
rs1880242 | 1.000 | 0.080 | 7 | 22719988 | intron variant | G/T | snv | 0.60 | 1 | ||
rs1800796 | 0.555 | 0.760 | 7 | 22726627 | non coding transcript exon variant | G/C | snv | 9.9E-02 | 74 | ||
rs1800795 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 140 | ||
rs75108997 | 1.000 | 0.080 | 1 | 233818485 | intergenic variant | G/A | snv | 1.8E-02 | 1 | ||
rs770374710 | 0.611 | 0.560 | 15 | 23645747 | frameshift variant | G/-;GG | delins | 87 | |||
rs10433310 | 1.000 | 0.080 | 22 | 23896636 | intron variant | G/A | snv | 0.32 | 1 | ||
rs16139 | 0.658 | 0.560 | 7 | 24285260 | missense variant | T/A;C | snv | 4.0E-06; 3.0E-02 | 36 | ||
rs72699765 | 1.000 | 0.080 | 15 | 25584050 | downstream gene variant | G/A | snv | 7.7E-02 | 1 | ||
rs886041065 | 0.677 | 0.600 | 2 | 25743913 | frameshift variant | G/- | delins | 43 | |||
rs199564797 | 0.742 | 0.360 | 1 | 25809150 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 | 25 | |
rs121908188 | 0.742 | 0.360 | 1 | 25809753 | missense variant | G/A;C | snv | 1.8E-04 | 25 | ||
rs745886248 | 0.742 | 0.360 | 1 | 25811710 | missense variant | G/A;C;T | snv | 4.3E-06; 4.3E-06; 4.3E-06 | 25 | ||
rs1275988 | 1.000 | 0.080 | 2 | 26691496 | upstream gene variant | C/T | snv | 0.48 | 6 |