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. 2020 Nov 2;21(21):8196. doi: 10.3390/ijms21218196

Table 3.

Clinically relevant SNPs in PI(3)P-binding proteins and ATG9 orthologues.

Gene Disease dbSNP rsID
ATG2A Granuloma formation in Crohn’s disease rs17146441
ATG2A Hyperuricemia rs188780113
ATG2B Non-muscle invasive bladder cancer rs3759601
ATG2B Head and neck squamous cell carcinoma rs3759601
ATG9B Coronary artery disease rs2373929; rs7830
ALFY Microcephaly rs1553924800
ALFY Malignant neoplasm of oropharynx rs6847067
DFCP1 Tuberculosis rs2333021
WIPI2 Osteoporosis rs4720530
WIPI3 Neurodevelopmental disorder rs786205510; rs1555647262
WIPI4 Rett syndrome rs886041382; rs886041693
WIPI4 Neurodegeneration with brain iron accumulation rs886041382
WIPI4 Early-onset epileptic encephalopathy rs1064793294
WIPI4 β-propeller protein-associated neurodegeneration (BPAN) rs387907330