Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2016116 | 1.000 | 0.040 | 18 | 35414928 | intergenic variant | A/G | snv | 6.4E-03 | 1 | ||
rs482843 | 1.000 | 0.040 | 1 | 70406697 | upstream gene variant | A/G | snv | 0.52 | 1 | ||
rs73079108 | 1.000 | 0.040 | 1 | 207102148 | upstream gene variant | G/A | snv | 0.10 | 1 | ||
rs883062 | 1.000 | 0.040 | 1 | 42144196 | downstream gene variant | G/A | snv | 0.42 | 1 | ||
rs9865108 | 1.000 | 0.040 | 3 | 151900547 | intron variant | T/C | snv | 0.17 | 1 | ||
rs755418013 | 1.000 | 0.040 | 17 | 37130209 | missense variant | G/A | snv | 4.0E-06 | 1 | ||
rs758980216 | 1.000 | 0.040 | 17 | 37149965 | missense variant | G/A | snv | 1.2E-05 | 2.8E-05 | 1 | |
rs1221928144 | 1.000 | 0.040 | 17 | 63477950 | missense variant | G/A;C | snv | 8.2E-06 | 1 | ||
rs12720742 | 1.000 | 0.040 | 17 | 63496923 | missense variant | C/G;T | snv | 2.4E-05; 3.2E-04 | 1 | ||
rs2048683 | 1.000 | 0.040 | X | 15590376 | intron variant | T/G | snv | 1 | |||
rs201637172 | 1.000 | 0.040 | 4 | 2894717 | missense variant | C/A;T | snv | 1 | |||
rs3755885 | 1.000 | 0.040 | 4 | 2886214 | intron variant | C/G | snv | 4.3E-02 | 1 | ||
rs11959427 | 1.000 | 0.040 | 5 | 148826465 | 5 prime UTR variant | C/T | snv | 0.68 | 1 | ||
rs2895795 | 1.000 | 0.040 | 5 | 148825403 | 5 prime UTR variant | T/A;G | snv | 1 | |||
rs2478544 | 1.000 | 0.040 | 1 | 230708450 | intron variant | C/A;G;T | snv | 1 | |||
rs387967 | 1.000 | 0.040 | 3 | 148697698 | upstream gene variant | G/C | snv | 0.20 | 1 | ||
rs777986489 | 1.000 | 0.040 | 3 | 148741657 | missense variant | T/C | snv | 3.2E-05 | 2.8E-05 | 1 | |
rs5194 | 1.000 | 0.040 | X | 116173577 | 3 prime UTR variant | A/G | snv | 1 | |||
rs2228099 | 1.000 | 0.040 | 1 | 150836413 | synonymous variant | C/G | snv | 0.41 | 0.42 | 1 | |
rs16932941 | 1.000 | 0.040 | 12 | 6845700 | missense variant | G/A | snv | 1 | |||
rs2275166 | 1.000 | 0.040 | 1 | 16053748 | missense variant | A/G | snv | 0.65 | 0.70 | 1 | |
rs5253 | 1.000 | 0.040 | 1 | 16053701 | missense variant | T/C | snv | 0.93 | 0.89 | 1 | |
rs945393 | 1.000 | 0.040 | 1 | 16043984 | intron variant | T/A;C;G | snv | 1 | |||
rs17479770 | 1.000 | 0.040 | 2 | 224471097 | 3 prime UTR variant | T/C | snv | 0.24 | 1 | ||
rs1870049 | 1.000 | 0.040 | 15 | 51333026 | intron variant | T/C;G | snv | 1 |