Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1131691036 | 0.851 | 0.080 | 17 | 7675207 | frameshift variant | GCA/CC | delins | 7 | |||
rs16940 | 0.882 | 0.080 | 17 | 43093220 | synonymous variant | A/G | snv | 0.35 | 0.29 | 5 | |
rs28363284 | 0.882 | 0.080 | 17 | 35103294 | missense variant | T/C | snv | 9.7E-03 | 1.1E-02 | 5 | |
rs121917739 | 0.882 | 0.080 | 15 | 40718818 | missense variant | G/A | snv | 3.7E-04 | 1.7E-03 | 4 | |
rs113211432 | 0.882 | 0.080 | 2 | 214767532 | frameshift variant | -/TG | delins | 3 | |||
rs1302297709 | 0.882 | 0.080 | 17 | 58703319 | missense variant | A/G | snv | 3 | |||
rs2070094 | 0.882 | 0.080 | 2 | 214767531 | missense variant | C/A;T | snv | 1.6E-05; 0.37 | 3 | ||
rs3112612 | 0.882 | 0.080 | 16 | 52601252 | intron variant | G/A | snv | 0.44 | 3 | ||
rs34434221 | 0.882 | 0.080 | 15 | 85579644 | missense variant | A/C | snv | 2.2E-02 | 2.2E-02 | 3 | |
rs386654966 | 0.882 | 0.080 | 2 | 214767531 | missense variant | CA/AG;TG | mnv | 3 | |||
rs41293475 | 0.882 | 0.080 | 13 | 32332629 | missense variant | C/G;T | snv | 7.6E-04 | 3 | ||
rs4645959 | 0.882 | 0.080 | 8 | 127738294 | missense variant | A/C;G | snv | 1.6E-05; 2.3E-02 | 3 | ||
rs6960867 | 0.882 | 0.080 | 7 | 92083384 | missense variant | A/G | snv | 0.36 | 0.34 | 3 | |
rs747364414 | 0.882 | 0.080 | 17 | 43082496 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 3 | |
rs767915085 | 0.882 | 0.080 | 16 | 28606122 | missense variant | T/C | snv | 8.0E-06 | 7.1E-06 | 3 | |
rs80357125 | 0.882 | 0.080 | 17 | 43063940 | missense variant | C/A;G;T | snv | 3 | |||
rs878853646 | 0.882 | 0.080 | 9 | 21971106 | missense variant | C/A;T | snv | 4.3E-06; 8.6E-06 | 3 | ||
rs886039958 | 0.882 | 0.080 | 17 | 43093956 | frameshift variant | A/-;AA | delins | 3 | |||
rs1060915 | 1.000 | 0.080 | 17 | 43082453 | synonymous variant | A/G | snv | 0.35 | 0.30 | 1 | |
rs1064795860 | 1.000 | 0.080 | 17 | 7675155 | missense variant | G/A | snv | 1 | |||
rs11075884 | 1.000 | 0.080 | 16 | 71321332 | intergenic variant | A/C;G | snv | 1 | |||
rs1186364060 | 1.000 | 0.080 | 1 | 91353084 | missense variant | C/T | snv | 1 | |||
rs140510218 | 1.000 | 0.080 | 16 | 67621458 | synonymous variant | A/G | snv | 1.2E-05 | 7.0E-06 | 1 | |
rs143282828 | 1.000 | 0.080 | 5 | 176968697 | missense variant | A/G | snv | 7.3E-04 | 7.3E-04 | 1 | |
rs152451 | 1.000 | 0.080 | 16 | 23634870 | missense variant | T/A;C | snv | 0.10 | 1 |