Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs11209026 | 0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 | 46 | |
rs10889677 | 0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 | 40 | ||
rs2201841 | 0.716 | 0.440 | 1 | 67228519 | intron variant | A/G;T | snv | 14 | |||
rs7530511 | 0.742 | 0.400 | 1 | 67219704 | missense variant | T/A;C | snv | 0.88 | 12 | ||
rs3753793 | 0.851 | 0.240 | 1 | 85580205 | upstream gene variant | A/C | snv | 0.26 | 4 | ||
rs12756618 | 1.000 | 0.160 | 1 | 85587205 | downstream gene variant | C/T | snv | 4.5E-02 | 1 | ||
rs1378228 | 1.000 | 0.160 | 1 | 85570890 | intron variant | G/C;T | snv | 1 | |||
rs6682848 | 1.000 | 0.160 | 1 | 85572793 | intron variant | A/C | snv | 0.89 | 1 | ||
rs231775 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 115 | ||
rs16944 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 92 | ||
rs1800587 | 0.620 | 0.720 | 2 | 112785383 | upstream gene variant | G/A;C | snv | 0.32 | 43 | ||
rs733618 | 0.763 | 0.440 | 2 | 203866221 | upstream gene variant | T/C | snv | 0.10 | 12 | ||
rs1143643 | 0.790 | 0.320 | 2 | 112830725 | intron variant | C/T | snv | 0.29 | 10 | ||
rs16840252 | 0.776 | 0.480 | 2 | 203866796 | upstream gene variant | C/T | snv | 0.16 | 8 | ||
rs11675434 | 0.827 | 0.240 | 2 | 1404043 | non coding transcript exon variant | C/T | snv | 0.39 | 5 | ||
rs3917368 | 1.000 | 0.160 | 2 | 112825205 | upstream gene variant | C/T | snv | 0.29 | 1 | ||
rs352140 | 0.630 | 0.680 | 3 | 52222681 | synonymous variant | C/A;G;T | snv | 2.0E-05; 0.49 | 42 | ||
rs2227306 | 0.677 | 0.680 | 4 | 73741338 | intron variant | C/T | snv | 0.31 | 21 | ||
rs907715 | 0.752 | 0.520 | 4 | 122613898 | intron variant | C/T | snv | 0.35 | 11 | ||
rs10004195 | 0.790 | 0.320 | 4 | 38783103 | upstream gene variant | T/A | snv | 0.29 | 8 | ||
rs13143866 | 0.851 | 0.200 | 4 | 122619603 | intron variant | G/A | snv | 0.24 | 4 | ||
rs56149945 | 0.595 | 0.680 | 5 | 143399752 | missense variant | T/A;C | snv | 2.0E-02 | 49 | ||
rs40401 | 0.776 | 0.440 | 5 | 132060785 | missense variant | C/T | snv | 0.29 | 0.33 | 8 | |
rs3806933 | 0.807 | 0.360 | 5 | 111071044 | 5 prime UTR variant | C/A;T | snv | 0.40 | 7 | ||
rs2069812 | 0.851 | 0.240 | 5 | 132544224 | intron variant | A/G | snv | 0.54 | 5 |