Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 199848 deletion NM_013254.3(TBK1):c.1349_1352delTTAA (p.Ile450Lysfs) 876657404 MedGen:CN231440,OMIM:616439 12 64882275 64882278 TTAA - 199848 deletion NM_013254.3(TBK1):c.1349_1352delTTAA (p.Ile450Lysfs) 876657404 MedGen:CN231440,OMIM:616439 12 64488495 64488498 TTAA - 199849 deletion NM_013254.3(TBK1):c.1436_1437delTG (p.Val479Glufs) 876657405 MedGen:CN231440,OMIM:616439 12 64488582 64488583 TG - 199849 deletion NM_013254.3(TBK1):c.1436_1437delTG (p.Val479Glufs) 876657405 MedGen:CN231440,OMIM:616439 12 64882362 64882363 TG - 199850 single nucleotide variant NM_013254.3(TBK1):c.2138+2T>C 876657406 MedGen:CN231440,OMIM:616439 12 64891821 64891821 T C 199850 single nucleotide variant NM_013254.3(TBK1):c.2138+2T>C 876657406 MedGen:CN231440,OMIM:616439 12 64498041 64498041 T C 199851 deletion NM_013254.3(TBK1):c.958delA (p.Thr320Glnfs) 755950225 MedGen:CN231440,OMIM:616439 12 64875767 64875767 A - 199851 deletion NM_013254.3(TBK1):c.958delA (p.Thr320Glnfs) 755950225 MedGen:CN231440,OMIM:616439 12 64481987 64481987 A - 199852 single nucleotide variant NM_013254.3(TBK1):c.1340+1G>A 767898276 MedGen:CN231440,OMIM:616439 12 64879798 64879798 G A 199852 single nucleotide variant NM_013254.3(TBK1):c.1340+1G>A 767898276 MedGen:CN231440,OMIM:616439 12 64486018 64486018 G A 199853 single nucleotide variant NM_013254.3(TBK1):c.2086G>A (p.Glu696Lys) 748112833 MedGen:CN231440,OMIM:616439 12 64891767 64891767 G A 199853 single nucleotide variant NM_013254.3(TBK1):c.2086G>A (p.Glu696Lys) 748112833 MedGen:CN231440,OMIM:616439 12 64497987 64497987 G A 199854 single nucleotide variant NM_013254.3(TBK1):c.1201A>G (p.Lys401Glu) 756751089 MedGen:CN231440,OMIM:616439 12 64879246 64879246 A G 199854 single nucleotide variant NM_013254.3(TBK1):c.1201A>G (p.Lys401Glu) 756751089 MedGen:CN231440,OMIM:616439 12 64485466 64485466 A G 247083 single nucleotide variant NM_013254.3(TBK1):c.964C>T (p.His322Tyr) 145905497 MedGen:CN169374 12 64875773 64875773 C T 247083 single nucleotide variant NM_013254.3(TBK1):c.964C>T (p.His322Tyr) 145905497 MedGen:CN169374 12 64481993 64481993 C T

Disease associated variation - GWASdb Chr Pos SNP ID(dbSNP 142) Ref Alt Ori SNP ID P-value Drug Name Drug Anno GWAS Trait HPO ID DO ID AA Type Trait or Drug 12 64863983 rs11837890 G T rs11837890 3.75E-05 Major depressive disorder (broad) HPOID:0000716 DOID:1470 T intron GWASdb_trait 12 64870510 rs11829120 C A rs11829120 3.97E-05 Major depressive disorder (broad) HPOID:0000716 DOID:1470 A intron GWASdb_trait 12 64874102 rs7303577 A C rs7303577 6.37E-05 Major depressive disorder (broad) HPOID:0000716 DOID:1470 C intron GWASdb_trait 12 64877053 rs4075094 T A rs4075094 4.24E-05 Major depressive disorder (broad) HPOID:0000716 DOID:1470 T intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000183735.9 TBK1 604834