APOE
apolipoprotein E
Summary
The protein encoded by this gene is a major apoprotein of the chylomicron. It binds to a specific liver and peripheral cell receptor, and is essential for the normal catabolism of triglyceride-rich lipoprotein constituents. This gene maps to chromosome 19 in a cluster with the related apolipoprotein C1 and C2 genes. Mutations in this gene result in familial dysbetalipoproteinemia, or type III hyperlipoproteinemia (HLP III), in which increased plasma cholesterol and triglycerides are the consequence of impaired clearance of chylomicron and VLDL remnants. [provided by RefSeq, Jun 2016]
Known Variants169 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs435380 | 19:45,407,118 | G/A | regulatory region variant | — |
| rs72654461 | 19:45,407,326 | G/A | regulatory region variant | — |
| rs72654463 | 19:45,407,409 | C/T | regulatory region variant | — |
| rs446037 | 19:45,407,437 | G/T | regulatory region variant | — |
| rs7259620 | 19:45,407,788 | G/C | — | — |
| rs439382 | 19:45,408,475 | A/G | upstream gene variant | — |
| rs449647 | 19:45,408,564 | A/T | regulatory region variant | — |
| rs769446 | 19:45,408,628 | T/C | regulatory region variant | — |
| rs405509 | 19:45,408,836 | T/G | regulatory region variant | drug response |
| rs1246551383 | 19:45,409,145 | G/A | — | uncertain significance |
| rs440446 | 19:45,409,167 | C/G | regulatory region variant | benign |
| rs563571689 | 19:45,409,180 | G/A | — | conflicting classifications of pathogenicity |
| rs769448 | 19:45,409,579 | T/C | — | likely benign |
| rs1969812567 | 19:45,409,900 | G/C | — | uncertain significance |
| rs978402858 | 19:45,409,903 | T/C | — | likely benign |
| rs144354013 | 19:45,409,912 | A/G | — | conflicting classifications of pathogenicity |
| rs769449 | 19:45,410,002 | G/A | regulatory region variant | benign |
| rs769450 | 19:45,410,444 | G/A | downstream gene variant | drug response |
| rs115299243 | 19:45,410,548 | A/G | downstream gene variant | — |
| rs769451 | 19:45,410,911 | T/G | downstream gene variant | — |
| rs121918392 | 19:45,411,034 | G/A | missense variant | pathogenic |
| rs111833428 | 19:45,411,042 | G/A | — | likely benign |
| rs150688032 | 19:45,411,057 | G/A | — | likely benign |
| rs370227413 | 19:45,411,063 | C/G | — | likely benign |
| rs201672011 | 19:45,411,064 | G/A | missense variant | pathogenic |
| rs755434388 | 19:45,411,081 | C/G | — | likely benign |
| rs2122132512 | 19:45,411,087 | G/A | — | uncertain significance |
| rs756353413 | 19:45,411,089 | A/G | — | uncertain significance |
| rs373020952 | 19:45,411,093 | C/T | — | likely benign |
| rs2513539611 | 19:45,411,098 | A/C | — | uncertain significance |
| rs121918399 | 19:45,411,100 | C/T | missense variant | pathogenic |
| rs769452 | 19:45,411,110 | T/C | missense variant | pathogenic |
| rs761381769 | 19:45,411,111 | G/A | — | likely benign |
| rs11542029 | 19:45,411,121 | C/A | — | uncertain significance |
| rs2513539697 | 19:45,411,136 | C/T | — | likely benign |
| rs376607258 | 19:45,411,138 | G/C | — | likely benign |
| rs752790054 | 19:45,411,140 | G/A | — | uncertain significance |
| rs28931576 | 19:45,411,151 | A/G | missense variant | pathogenic |
| rs2513539751 | 19:45,411,163 | C/T | — | uncertain significance |
| rs370594287 | 19:45,411,165 | G/C | — | uncertain significance |
| rs2513539761 | 19:45,411,166 | G/T | — | uncertain significance |
| rs139948786 | 19:45,411,178 | C/T | — | likely benign |
| rs781192562 | 19:45,411,183 | C/T | — | likely benign |
| rs757100480 | 19:45,411,187 | T/G | — | uncertain significance |
| rs12982192 | 19:45,411,259 | T/C | downstream gene variant | — |
| rs748779489 | 19:45,411,782 | G/C | — | likely benign |
| rs1238363607 | 19:45,411,786 | G/T | — | uncertain significance |
| rs397514253 | 19:45,411,788 | A/G | — | pathogenic |
| rs759134820 | 19:45,411,793 | G/A | — | likely benign |
| rs767980905 | 19:45,411,802 | C/T | — | likely benign |
| rs368210726 | 19:45,411,819 | T/C | — | uncertain significance |
| rs371331933 | 19:45,411,832 | A/G | — | likely benign |
| rs776830091 | 19:45,411,834 | C/G | — | uncertain significance |
| rs1969855667 | 19:45,411,836 | G/A | — | uncertain significance |
| rs577618688 | 19:45,411,849 | A/G | — | uncertain significance |
| rs267605543 | 19:45,411,853 | G/A | — | likely benign |
| rs11083750 | 19:45,411,858 | C/G | missense variant | association |
| rs368495194 | 19:45,411,859 | G/A | — | likely benign |
| rs767382895 | 19:45,411,863 | G/A | — | uncertain significance |
| rs752409518 | 19:45,411,865 | G/A | — | likely benign |
| rs777571029 | 19:45,411,874 | G/A | — | likely benign |
| rs745552623 | 19:45,411,888 | C/A | — | uncertain significance |
| rs11542033 | 19:45,411,889 | C/G | — | likely benign |
| rs2513541146 | 19:45,411,892 | G/A | — | likely benign |
| rs28931577 | 19:45,411,902 | G/A | missense variant | pathogenic |
| rs768998148 | 19:45,411,907 | G/T | — | likely benign |
| rs777291619 | 19:45,411,909 | A/C | — | uncertain significance |
| rs1969859756 | 19:45,411,915 | G/A | — | uncertain significance |
| rs587778876 | 19:45,411,917 | C/A | — | not provided |
| rs2513541253 | 19:45,411,923 | G/A | — | uncertain significance |
| rs773391883 | 19:45,411,934 | G/A | — | likely benign |
| rs766493265 | 19:45,411,937 | C/T | — | likely benign |
| rs1056815951 | 19:45,411,940 | G/A | — | likely benign |
| rs429358 | 19:45,411,941 | T/C | missense variant | risk factor |
| rs11542041 | 19:45,411,947 | C/T | — | uncertain significance |
| rs573658040 | 19:45,411,962 | C/G | — | uncertain significance |
| rs1267728092 | 19:45,411,967 | C/T | — | likely benign |
| rs41382345 | 19:45,411,969 | A/G | — | uncertain significance |
| rs1969863273 | 19:45,411,975 | A/G | — | uncertain significance |
| rs1489359246 | 19:45,411,985 | C/T | — | likely benign |
| rs267606664 | 19:45,411,987 | G/A | missense variant | pathogenic |
| rs773479792 | 19:45,411,997 | C/G | — | likely benign |
| rs587778877 | 19:45,412,004 | C/A | — | not provided |
| rs28931578 | 19:45,412,008 | G/A | missense variant | pathogenic |
| rs1969865204 | 19:45,412,009 | G/T | — | likely benign |
| rs121918393 | 19:45,412,013 | C/T | missense variant | pathogenic |
| rs200703101 | 19:45,412,014 | G/T | missense variant | pathogenic |
| rs753601274 | 19:45,412,015 | C/T | — | likely benign |
| rs1356159599 | 19:45,412,018 | C/T | — | likely benign |
| rs387906567 | 19:45,412,031 | C/T | missense variant | pathogenic |
| rs1377830202 | 19:45,412,037 | C/A | — | uncertain significance |
| rs769455 | 19:45,412,040 | C/T | missense variant | pathogenic |
| rs121918397 | 19:45,412,041 | G/A | missense variant | pathogenic |
| rs1599953670 | 19:45,412,042 | T/G | — | likely benign |
| rs121918394 | 19:45,412,043 | A/G | missense variant | pathogenic |
| rs1332591068 | 19:45,412,047 | G/C | — | likely pathogenic |
| rs1347476726 | 19:45,412,048 | G/T | — | likely benign |
| rs267606662 | 19:45,412,061 | G/C | missense variant | pathogenic |
| rs7412 | 19:45,412,079 | C/T | missense variant | drug response |
| rs1465409896 | 19:45,412,090 | G/A | — | likely benign |
Showing 100 of 169 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.