Table 2.
APE1 Missense Variants
| Variant | rsa | Allele frequency (%) | Submitter |
|---|---|---|---|
| G8R | rs202001645 | N/A | 1000Genome/EXOME_CHIP |
| P21L | rs150934075 | Once | 1000Genome |
| S26R | rs200630518 | N/A | 1000Genome |
| K35Q | rs61757709 | Once | Multiple |
| G39E | rs34632023 | 1.3 | APPLERA_GI|hCV25628237 |
| A43V | rs146439344 | N/A | 1000Genome |
| Q51Hb | rs1048945 | 2.5a | Multiple |
| I64T | rs61730854 | 1.3 | CORNELL |
| I64Vb | rs2307486 | 0.6a | Multiple |
| A88T | rs146768400 | Once | NHLBI-ESP|ESP2500-chr14-20924842 |
| E110G | rs200702900 | N/A | 1000Genome |
| C138Y | rs150356603 | Once | NHLBI-ESP|ESP2500-chr14-20924993 |
| I146V | rs201190560 | N/A | EXOME_CHIP |
| D148Eb | rs1130409 | 42.4 | Multiple |
| D163E | rs149168435 | 0.1 | NHLBI-ESP|ESP2500-chr14-20925199 |
| R187H | rs148298598 | Once | NHLBI-ESP|ESP2500-chr14-20925270 |
| R221C | rs147110862 | Once | NHLBI-ESP|ESP2500-chr14-20925371 |
| N222H | rs201945833 | 0.1 | EXOME_CHIP/CLINSEQ_SNP |
| R237H | rs189916038 | N/A | 1000Genome |
| G241Rb | rs33956927 | 0.5 | Multiple |
| P248L | rs201100630 | N/A | EXOME_CHIP |
| P311Sb | rs1803120 | N/A | Multiple |
| T313A | rs113056798 | Once | BUSHMAN|BUSHMAN-chr14-19995486 |
| A317Vb | rs1803118 | N/A | Multiple |
a
Frequency varies between populations.
b
Functionally characterized (see text).
N/A, not available (or unknown).