Table 5.
Clinically relevant SNPs in selective autophagy receptors.
| Gene | Disease | dbSNP rsID |
|---|---|---|
| ATGL | Neutral lipid storage disease with myopathy | rs121918259 |
| ATL3 | Hereditary sensory autonomic neuropathy | rs587777108 |
| BNIP3 | Major depressive disorder | rs9419139 |
| BNIP3L | Schizophrenia | rs1042992; rs73219805; rs73219806 |
| BNIP3L | Cognitive decline | rs77609452 |
| HSL | Lipodystrophy | rs766817317; rs587777699 |
| HTT | Huntington’s disease | rs1210554604; rs10015979; rs110501; rs11731237; rs2071655; rs2269499; rs2285086; rs2298969; rs2471347; rs362272; rs363066; rs363092; rs363096; rs3856973; rs6855981; rs82333; rs916171; rs118005095; rs13102260 |
| NBR1 | Brooke–Spiegler syndrome | rs202122812 |
| NCOA4 | Prostate cancer | rs10740051; rs10761581 |
| NCOA4 | Papillary thyroid carcinoma | rs782237788 |
| NDP52 | Crohn’s disease | rs2303015 |
| NIPSNAP1 | Breast cancer | rs183421746 |
| NUFIP1 | Asthma | rs114280567 |
| OPTN | Amyotrophic lateral sclerosis | rs267606928; rs267606929 |
| OPTN | Primary open-angle glaucoma | rs28939688 |
| OPTN | Paget’s disease of the bone | rs1561570; rs2234968 |
| PHB2 | Bisphosphonate-associated osteonecrosis of the jaw | rs11064477 |
| FAM134B | Hereditary sensory autonomic neuropathy | rs137852737; rs137852738; rs137852739; rs886037748 |
| RTN3 | Malaria | rs542998 |
| SQSTM1 | Frontotemporal dementia | rs776749939; rs772889843; rs1355424687 |
| SQSTM1 | Paget’s disease of the bone | rs796051869; rs104893941 |
| SQSTM1 | Amyotrophic lateral sclerosis | rs796052214; rs796051870; rs796051870 |
| SQSTM1 | Neurodegeneration | rs886039780 |
| SQSTM1 | Parkinson’s disease | rs200396166 |
| SQSTM1 | Atypical apraxia of speech | rs796052214 |
| SQSTM1 | Sporadic inclusion body myositis | rs11548633 |
| STBD1 | Parkinson’s disease | rs6812193 |
| TAX1BP1 | Head and neck carcinoma | rs11540483 |
| TAX1BP1 | Hypospadias | rs10214930 |
| TOLLIP | Leishmaniasis | rs3750920; rs5743899 |
| TOLLIP | Leprosy | rs3793964; rs3750920 |
| TOLLIP | Malaria | rs3750920 |
| TOLLIP | Tuberculosis | rs3750920; rs5743867 |
| TOLLIP | Sepsis | rs5743867 |
| TOLLIP | Idiopathic pulmonary fibrosis | rs5743890; rs111521887; rs3750920 |
| TOLLIP | Fibrotic idiopathic interstitial pneumonia | rs3168046; rs3750920; rs3793964; rs3829223; rs5744034 |