Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 48597 single nucleotide variant NM_020774.3(MIB1):c.2827G>T (p.Val943Phe) 200035428 MedGen:C3554496,OMIM:615092 18 19438554 19438554 G T 48597 single nucleotide variant NM_020774.3(MIB1):c.2827G>T (p.Val943Phe) 200035428 MedGen:C3554496,OMIM:615092 18 21858593 21858593 G T 48598 single nucleotide variant NM_020774.3(MIB1):c.1588C>T (p.Arg530Ter) 201850378 MedGen:C3554496,OMIM:615092 18 19395685 19395685 C T 48598 single nucleotide variant NM_020774.3(MIB1):c.1588C>T (p.Arg530Ter) 201850378 MedGen:C3554496,OMIM:615092 18 21815724 21815724 C T 178721 single nucleotide variant NM_020774.3(MIB1):c.758A>G (p.Asn253Ser) 730880134 MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:C0949658 18 21779535 21779535 A G 178721 single nucleotide variant NM_020774.3(MIB1):c.758A>G (p.Asn253Ser) 730880134 MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:C0949658 18 19359496 19359496 A G 178722 single nucleotide variant NM_020774.3(MIB1):c.1322A>G (p.Asn441Ser) 730880135 MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:C0949658 18 21799925 21799925 A G 178722 single nucleotide variant NM_020774.3(MIB1):c.1322A>G (p.Asn441Ser) 730880135 MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:C0949658 18 19379886 19379886 A G 224523 single nucleotide variant NM_020774.3(MIB1):c.37G>C (p.Gly13Arg) 370019024 MedGen:CN169374 18 21741620 21741620 G C 224523 single nucleotide variant NM_020774.3(MIB1):c.37G>C (p.Gly13Arg) 370019024 MedGen:CN169374 18 19321581 19321581 G C 224524 single nucleotide variant NM_020774.3(MIB1):c.376C>T (p.Arg126Ter) 190657514 MedGen:CN169374 18 19345879 19345879 C T 224524 single nucleotide variant NM_020774.3(MIB1):c.376C>T (p.Arg126Ter) 190657514 MedGen:CN169374 18 21765918 21765918 C T 224525 single nucleotide variant NM_020774.3(MIB1):c.742A>G (p.Ile248Val) 757096307 Human Phenotype Ontology:HP:0004757,MedGen:CN004206 18 21779519 21779519 A G 224525 single nucleotide variant NM_020774.3(MIB1):c.742A>G (p.Ile248Val) 757096307 Human Phenotype Ontology:HP:0004757,MedGen:CN004206 18 19359480 19359480 A G 360305 single nucleotide variant NM_020774.3(MIB1):c.442G>T (p.Ala148Ser) 369261422 MedGen:CN169374 18 21768663 21768663 G T 360305 single nucleotide variant NM_020774.3(MIB1):c.442G>T (p.Ala148Ser) 369261422 MedGen:CN169374 18 19348624 19348624 G T 360350 single nucleotide variant NM_020774.3(MIB1):c.705T>C (p.Gly235=) 755288537 MedGen:CN169374 18 21779482 21779482 T C 360350 single nucleotide variant NM_020774.3(MIB1):c.705T>C (p.Gly235=) 755288537 MedGen:CN169374 18 19359443 19359443 T C 360351 single nucleotide variant NM_020774.3(MIB1):c.2235G>T (p.Gln745His) 1057518310 MedGen:CN169374 18 21846967 21846967 G T 360351 single nucleotide variant NM_020774.3(MIB1):c.2235G>T (p.Gln745His) 1057518310 MedGen:CN169374 18 19426928 19426928 G 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 18 19379421 rs2959521 T C rs2959521 0.00000013 EFAVIRENZ OXIDOREDUCTASES, N-DEMETHYLATING|BENZOXAZINES|CYTOCHROME P-450 CYP2B6|CYP2B6 PROTEIN, HUMAN|ARYL HYDROCARBON HYDROXYLASES|ANTI-HIV AGENTS Efavirenz pharmacokinetics (log-transformed trough efavirenz concentration) HPOID:0002721 DOID:526 A intron GWASdb_drug 18 19325482 rs2959510 G A rs2959510 6.28E-04 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait 18 19351344 rs1893384 A C rs1893384 2.33E-04 Parkinson's disease HPOID:0001300 DOID:14330 A intron GWASdb_trait 18 19355507 rs3017041 C T rs3017041 3.37E-04 Parkinson's disease HPOID:0001300 DOID:14330 A intron GWASdb_trait 18 19379421 rs2959521 T C rs2959521 0.00000013 Efavirenz pharmacokinetics (log-transformed trough efavirenz concentration) HPOID:0002721 DOID:526 A intron GWASdb_trait 18 19428028 rs12458857 A T rs12458857 3.58E-04 Lymphocyte counts HPOID:0004332|HPOID:0002665 DOID:2841|DOID:1240|DOID:0060058|DOID:614|DOID:1287 A intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000101752.11 MIB1 608677