Source: CLINVAR ×
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057519920 | 0.790 | 0.160 | 2 | 177234232 | missense variant | C/A;G;T | snv | 7 | |||
rs1057519921 | 0.763 | 0.240 | 2 | 177234231 | missense variant | T/C | snv | 7 | |||
rs1057519922 | 0.790 | 0.200 | 2 | 177234082 | missense variant | C/G;T | snv | 7 | |||
rs1057519923 | 0.807 | 0.200 | 2 | 177234081 | missense variant | T/A | snv | 6 | |||
rs1057519924 | 0.807 | 0.200 | 2 | 177234080 | missense variant | C/A | snv | 6 | |||
rs104886003 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 34 | ||
rs1057519927 | 0.716 | 0.240 | 3 | 179218295 | missense variant | A/C;G;T | snv | 18 | |||
rs1057519928 | 0.807 | 0.200 | 3 | 179221147 | missense variant | A/C | snv | 8 | |||
rs1057519931 | 0.827 | 0.160 | 3 | 179199141 | missense variant | G/C | snv | 6 | |||
rs1057519932 | 0.683 | 0.320 | 3 | 179234298 | missense variant | T/G | snv | 22 | |||
rs1057519940 | 0.752 | 0.200 | 3 | 179218308 | missense variant | G/T | snv | 13 | |||
rs121913228 | 0.742 | 0.200 | 3 | 41224621 | missense variant | T/C;G | snv | 11 | |||
rs121913273 | 0.605 | 0.440 | 3 | 179218294 | missense variant | G/A;C | snv | 21 | |||
rs121913274 | 0.645 | 0.320 | 3 | 179218304 | missense variant | A/C;G;T | snv | 28 | |||
rs121913275 | 0.672 | 0.320 | 3 | 179218305 | missense variant | G/A;C;T | snv | 4.0E-06 | 25 | ||
rs121913279 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 45 | ||
rs121913281 | 0.623 | 0.520 | 3 | 179234296 | missense variant | C/T | snv | 37 | |||
rs121913286 | 0.677 | 0.280 | 3 | 179218306 | missense variant | C/A;G | snv | 20 | |||
rs121913396 | 0.732 | 0.200 | 3 | 41224607 | missense variant | A/C;G;T | snv | 11 | |||
rs121913403 | 0.683 | 0.240 | 3 | 41224622 | missense variant | C/A;G;T | snv | 13 | |||
rs28931588 | 0.701 | 0.200 | 3 | 41224606 | missense variant | G/A;C;T | snv | 14 | |||
rs397517201 | 0.732 | 0.240 | 3 | 179218307 | missense variant | A/C;G;T | snv | 14 | |||
rs867262025 | 0.790 | 0.360 | 3 | 179221146 | missense variant | G/A | snv | 9 | |||
rs1057519896 | 0.742 | 0.320 | 4 | 152326136 | missense variant | C/A;T | snv | 12 | |||
rs149680468 | 0.742 | 0.320 | 4 | 152326137 | missense variant | G/A;C;T | snv | 12 |