Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs10505476 | 8 | 127395871 | intron variant | C/T | snv | 0.38 | 3 | ||||
rs778826879 | 16 | 30121948 | missense variant | C/G;T | snv | 1.2E-05; 8.0E-06 | 3 | ||||
rs146462069 | X | 131278706 | missense variant | T/C;G | snv | 3.8E-05; 9.5E-03 | 2 | ||||
rs1201299 | 3 | 177053096 | intron variant | C/T | snv | 1.7E-02 | 1 | ||||
rs142163070 | 8 | 142877100 | missense variant | T/C | snv | 2.0E-04 | 4.5E-04 | 1 | |||
rs2227999 | 3 | 14158408 | missense variant | C/T | snv | 4.2E-02 | 4.0E-02 | 1 | |||
rs2720574 | 8 | 17578682 | intron variant | C/A;G;T | snv | 1 | |||||
rs2855798 | 11 | 128863066 | intron variant | G/T | snv | 0.21 | 1 | ||||
rs386834263 | 3 | 53673113 | missense variant | G/C | snv | 1 | |||||
rs4648310 | 1 | 186671393 | downstream gene variant | T/C;G | snv | 1 | |||||
rs763539313 | 12 | 6537702 | missense variant | A/G | snv | 2.0E-05 | 4.9E-05 | 1 | |||
rs774679649 | 1 | 159713878 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 1 | |||
rs939481814 | 2 | 233767063 | synonymous variant | A/T | snv | 1 | |||||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 | ||
rs1800562 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 262 | |
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs878854066 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 213 | |||
rs1799945 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 226 | |
rs1695 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 188 | |
rs1799782 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 151 | |
rs1052133 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 147 |