Source: CLINVAR
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs760187215 | 1.000 | 0.040 | 14 | 23431859 | missense variant | C/T | snv | 8.0E-06 | 6 | ||
rs606231324 | 0.851 | 0.080 | 14 | 23428505 | missense variant | C/G;T | snv | 5 | |||
rs397516248 | 0.851 | 0.200 | 14 | 23415153 | missense variant | C/T | snv | 5 | |||
rs397516089 | 0.827 | 0.080 | 14 | 23429807 | missense variant | C/G;T | snv | 4 | |||
rs397516165 | 0.925 | 0.080 | 14 | 23424118 | missense variant | C/G;T | snv | 4 | |||
rs121913647 | 0.925 | 0.160 | 14 | 23417173 | missense variant | C/A;G;T | snv | 1.6E-05 | 3 | ||
rs45544633 | 1.000 | 0.080 | 14 | 23417174 | missense variant | G/A | snv | 3 | |||
rs121913627 | 0.851 | 0.080 | 14 | 23427657 | missense variant | C/A;G;T | snv | 4.0E-06 | 3 | ||
rs121913630 | 0.851 | 0.080 | 14 | 23425814 | missense variant | G/A;C | snv | 1.2E-05 | 3 | ||
rs121913642 | 0.925 | 0.080 | 14 | 23427879 | missense variant | A/G | snv | 3 | |||
rs397516142 | 1.000 | 0.080 | 14 | 23425357 | missense variant | C/A;G;T | snv | 8.0E-06; 1.6E-05 | 3 | ||
rs397516254 | 0.925 | 0.160 | 14 | 23413809 | missense variant | C/T | snv | 3 | |||
rs45516091 | 14 | 23431608 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 | 2 | |||
rs727503253 | 1.000 | 0.040 | 14 | 23424119 | missense variant | G/A | snv | 4.0E-06 | 2 | ||
rs145734640 | 0.925 | 0.080 | 14 | 23415096 | missense variant | G/A;C;T | snv | 1.6E-05; 1.6E-05; 4.0E-06 | 1 | ||
rs397516253 | 14 | 23413823 | missense variant | C/G;T | snv | 1.2E-05 | 1 | ||||
rs1555338080 | 14 | 23427274 | missense variant | C/G | snv | 1 | |||||
rs377491278 | 14 | 23427773 | missense variant | C/T | snv | 1.2E-05 | 1.4E-05 | 1 | |||
rs397516122 | 14 | 23427682 | missense variant | G/T | snv | 1 | |||||
rs397516123 | 14 | 23427675 | missense variant | G/A | snv | 1 | |||||
rs397516224 | 14 | 23432684 | frameshift variant | G/- | delins | 4.0E-06 | 1 | ||||
rs397516258 | 1.000 | 0.040 | 14 | 23431798 | missense variant | A/G;T | snv | 1 | |||
rs727503254 | 14 | 23424770 | missense variant | G/A;T | snv | 1 | |||||
rs727503258 | 14 | 23425358 | missense variant | G/A;C | snv | 4.0E-06 | 1 | ||||
rs727503265 | 14 | 23427889 | missense variant | C/T | snv | 1 |