Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2285489 | 9 | 133424254 | intron variant | T/C | snv | 0.68 | 2 | ||||
rs770692189 | 1.000 | 0.120 | 2 | 111123957 | missense variant | G/A;T | snv | 1.6E-05; 4.0E-06 | 2 | ||
rs267606706 | 0.807 | 0.240 | 11 | 119278181 | missense variant | T/A;C | snv | 8.0E-06 | 9 | ||
rs757874631 | 0.882 | 0.120 | 11 | 119278211 | missense variant | T/A;C | snv | 4 | |||
rs387906664 | 1.000 | 11 | 119278220 | missense variant | T/C;G | snv | 2 | ||||
rs1800023 | 1.000 | 0.040 | 3 | 46370817 | intron variant | A/G | snv | 0.29 | 2 | ||
rs13347 | 0.763 | 0.320 | 11 | 35231725 | 3 prime UTR variant | C/A;T | snv | 12 | |||
rs767464424 | 0.925 | 0.080 | 2 | 37222420 | frameshift variant | T/- | delins | 4.2E-06 | 3 | ||
rs777017502 | 0.925 | 0.080 | 2 | 37222420 | missense variant | T/C;G | snv | 4.2E-06; 4.2E-06 | 3 | ||
rs1057519802 | 5 | 150061765 | missense variant | A/C | snv | 2 | |||||
rs121913390 | 5 | 150073481 | stop gained | A/G;T | snv | 2 | |||||
rs121913393 | 5 | 150054083 | missense variant | A/G | snv | 2 | |||||
rs1801271 | 5 | 150054082 | missense variant | T/A;C | snv | 2 | |||||
rs1057520014 | 5 | 150073480 | missense variant | C/A | snv | 1 | |||||
rs3921 | 0.807 | 0.240 | 4 | 76021790 | 3 prime UTR variant | C/G | snv | 0.61 | 8 | ||
rs1801157 | 0.611 | 0.600 | 10 | 44372809 | 3 prime UTR variant | C/T | snv | 0.16 | 46 | ||
rs3745274 | 0.672 | 0.480 | 19 | 41006936 | missense variant | G/A;T | snv | 4.0E-06; 0.27 | 30 | ||
rs724159947 | 0.851 | 0.120 | 12 | 11869601 | missense variant | C/T | snv | 6 | |||
rs724159945 | 1.000 | 12 | 11885968 | missense variant | C/A;T | snv | 3 | ||||
rs724159946 | 1.000 | 12 | 11884541 | missense variant | G/A | snv | 7.0E-06 | 3 | |||
rs1057519766 | 0.851 | 0.080 | 13 | 28028203 | missense variant | G/C;T | snv | 5 | |||
rs78245253 | 1.000 | 3 | 128485850 | missense variant | G/A;C | snv | 4.0E-06; 5.0E-03 | 2 | |||
rs148704956 | 0.716 | 0.360 | 6 | 52187772 | missense variant | A/G | snv | 8.0E-06 | 7.0E-06 | 19 | |
rs8192284 | 0.724 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 19 | |||
rs77375493 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 187 |