Source: CLINVAR ×
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs747241612 | 0.752 | 0.240 | 4 | 152326215 | missense variant | G/C | snv | 4.0E-06 | 12 | ||
rs759610249 | 0.790 | 0.160 | 4 | 152323032 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 8 | |
rs866987936 | 0.752 | 0.240 | 4 | 152326214 | missense variant | C/A;G;T | snv | 12 | |||
rs104894226 | 0.658 | 0.560 | 11 | 534285 | missense variant | C/A;G;T | snv | 23 | |||
rs104894228 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 30 | |||
rs104894229 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 52 | |||
rs104894230 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 36 | |||
rs1057519893 | 0.790 | 0.160 | 12 | 56085070 | missense variant | G/A;T | snv | 8 | |||
rs1057519884 | 0.752 | 0.240 | 16 | 3738616 | missense variant | C/A;T | snv | 11 | |||
rs398124146 | 0.742 | 0.360 | 16 | 3738617 | missense variant | G/A;C | snv | 12 | |||
rs1057519816 | 0.763 | 0.200 | 17 | 39711955 | missense variant | C/A;T | snv | 10 | |||
rs1057519981 | 0.689 | 0.440 | 17 | 7674251 | missense variant | A/C;G;T | snv | 20 | |||
rs1057519996 | 0.701 | 0.360 | 17 | 7675217 | splice acceptor variant | T/A;C;G | snv | 16 | |||
rs121912660 | 0.683 | 0.240 | 17 | 7673781 | missense variant | C/A;G;T | snv | 18 | |||
rs121913468 | 0.827 | 0.160 | 17 | 39724008 | missense variant | G/A;C;T | snv | 5 | |||
rs587780071 | 0.732 | 0.240 | 17 | 7674951 | missense variant | G/A | snv | 11 | |||
rs730882005 | 0.701 | 0.400 | 17 | 7674250 | missense variant | C/A;G;T | snv | 8.0E-06 | 20 | ||
rs747342068 | 0.695 | 0.440 | 17 | 7675218 | missense variant | T/C;G | snv | 4.0E-06 | 17 | ||
rs753660142 | 0.708 | 0.280 | 17 | 7673782 | missense variant | T/C;G | snv | 1.6E-05 | 19 | ||
rs866775781 | 0.716 | 0.440 | 17 | 7675216 | splice acceptor variant | C/A;G | snv | 17 | |||
rs371769427 | 0.683 | 0.400 | 21 | 43104346 | missense variant | G/A;T | snv | 8.0E-06 | 9 | ||
rs1057519889 | 0.807 | 0.200 | 22 | 41169525 | missense variant | G/A;T | snv | 6 | |||
rs1057519911 | 0.776 | 0.160 | 22 | 21772875 | missense variant | C/T | snv | 3 |