Source: CLINVAR ×
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 22 | ||
rs121913338 | 0.677 | 0.400 | 7 | 140753354 | missense variant | T/A;C;G | snv | 12 | |||
rs397516896 | 0.763 | 0.360 | 7 | 140753355 | missense variant | C/G;T | snv | 11 | |||
rs121913351 | 0.776 | 0.240 | 7 | 140781611 | missense variant | C/A;G;T | snv | 4.0E-06 | 9 | ||
rs759610249 | 0.790 | 0.160 | 4 | 152323032 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 8 | |
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 | |||
rs866987936 | 0.752 | 0.240 | 4 | 152326214 | missense variant | C/A;G;T | snv | 12 | |||
rs747241612 | 0.752 | 0.240 | 4 | 152326215 | missense variant | G/C | snv | 4.0E-06 | 12 | ||
rs1057519942 | 0.724 | 0.320 | 3 | 179203760 | missense variant | G/A | snv | 15 | |||
rs1057519941 | 0.776 | 0.240 | 3 | 179203761 | missense variant | T/C;G | snv | 9 | |||
rs104886003 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 34 | ||
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 | ||
rs121913286 | 0.677 | 0.280 | 3 | 179218306 | missense variant | C/A;G | snv | 20 | |||
rs397517201 | 0.732 | 0.240 | 3 | 179218307 | missense variant | A/C;G;T | snv | 14 | |||
rs1057519940 | 0.752 | 0.200 | 3 | 179218308 | missense variant | G/T | snv | 13 | |||
rs121913281 | 0.623 | 0.520 | 3 | 179234296 | missense variant | C/T | snv | 37 | |||
rs121913279 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 45 | ||
rs1057519932 | 0.683 | 0.320 | 3 | 179234298 | missense variant | T/G | snv | 22 | |||
rs121913386 | 0.807 | 0.120 | 9 | 21971018 | missense variant | G/A;T | snv | 6 | |||
rs104894104 | 0.790 | 0.160 | 9 | 21971019 | missense variant | G/A;T | snv | 4 | |||
rs34968276 | 0.776 | 0.240 | 9 | 21971110 | stop gained | G/A;C;T | snv | 9 | |||
rs1057519881 | 0.776 | 0.240 | 9 | 21971111 | missense variant | T/C | snv | 8 | |||
rs121913385 | 0.763 | 0.240 | 9 | 21971112 | missense variant | G/A;C | snv | 8 |