Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 106799 single nucleotide variant NM_006767.3(LZTR1):c.264-13G>A 587777176 MedGen:C3810283,OMIM:615670 22 21340117 21340117 G A 106799 single nucleotide variant NM_006767.3(LZTR1):c.264-13G>A 587777176 MedGen:C3810283,OMIM:615670 22 20985828 20985828 G A 106800 single nucleotide variant NM_006767.3(LZTR1):c.365C>T (p.Ser122Leu) 587777177 MedGen:C3810283,OMIM:615670 22 21341837 21341837 C T 106800 single nucleotide variant NM_006767.3(LZTR1):c.365C>T (p.Ser122Leu) 587777177 MedGen:C3810283,OMIM:615670 22 20987548 20987548 C T 106801 single nucleotide variant NM_006767.3(LZTR1):c.2062C>T (p.Arg688Cys) 587777178 MedGen:C3810283,OMIM:615670 22 21350154 21350154 C T 106801 single nucleotide variant NM_006767.3(LZTR1):c.2062C>T (p.Arg688Cys) 587777178 MedGen:C3810283,OMIM:615670 22 20995865 20995865 C T 106802 deletion NM_006767.3(LZTR1):c.2348_2351delCGCA (p.Thr783Argfs) 587777179 MedGen:C3810283,OMIM:615670 22 21351197 21351200 CGCA - 106802 deletion NM_006767.3(LZTR1):c.2348_2351delCGCA (p.Thr783Argfs) 587777179 MedGen:C3810283,OMIM:615670 22 20996908 20996911 CGCA - 106803 single nucleotide variant NM_006767.3(LZTR1):c.1397G>A (p.Arg466Gln) 587777180 MedGen:C3810283,OMIM:615670 22 21348256 21348256 G A 106803 single nucleotide variant NM_006767.3(LZTR1):c.1397G>A (p.Arg466Gln) 587777180 MedGen:C3810283,OMIM:615670 22 20993967 20993967 G A 153652 deletion NM_006767.3(LZTR1):c.27delG (p.Gln10Argfs) 587777613 MedGen:C3810283,OMIM:615670 22 21336687 21336687 G - 153652 deletion NM_006767.3(LZTR1):c.27delG (p.Gln10Argfs) 587777613 MedGen:C3810283,OMIM:615670 22 20982398 20982398 G - 205685 single nucleotide variant NM_006767.3(LZTR1):c.742G>A (p.Gly248Arg) 869320686 MedGen:CN232946,OMIM:616564;MedGen:CN221809 22 21344765 21344765 G A 205685 single nucleotide variant NM_006767.3(LZTR1):c.742G>A (p.Gly248Arg) 869320686 MedGen:CN232946,OMIM:616564;MedGen:CN221809 22 20990476 20990476 G A 205686 single nucleotide variant NM_006767.3(LZTR1):c.850C>T (p.Arg284Cys) 797045165 MedGen:CN232946,OMIM:616564 22 20991686 20991686 C T 205686 single nucleotide variant NM_006767.3(LZTR1):c.850C>T (p.Arg284Cys) 797045165 MedGen:CN232946,OMIM:616564 22 21345975 21345975 C T 205687 single nucleotide variant NM_006767.3(LZTR1):c.740G>A (p.Ser247Asn) 797045166 MedGen:CN232946,OMIM:616564 22 20990474 20990474 G A 205687 single nucleotide variant NM_006767.3(LZTR1):c.740G>A (p.Ser247Asn) 797045166 MedGen:CN232946,OMIM:616564 22 21344763 21344763 G A 215596 deletion NM_006767.3(LZTR1):c.646_651+31del37 541944601 MedGen:CN169374 22 20989677 20989713 na na 215596 deletion NM_006767.3(LZTR1):c.646_651+31del37 541944601 MedGen:CN169374 22 21343966 21344002 na na 264780 single nucleotide variant NM_006767.3(LZTR1):c.202C>A (p.Arg68Ser) 886041418 MedGen:CN169374 22 20983028 20983028 C A 264780 single nucleotide variant NM_006767.3(LZTR1):c.202C>A (p.Arg68Ser) 886041418 MedGen:CN169374 22 21337317 21337317 C A 264782 single nucleotide variant NM_006767.3(LZTR1):c.1396C>T (p.Arg466Trp) 550922200 MedGen:CN169374 22 21348255 21348255 C T 264782 single nucleotide variant NM_006767.3(LZTR1):c.1396C>T (p.Arg466Trp) 550922200 MedGen:CN169374 22 20993966 20993966 C T 264980 single nucleotide variant NM_006767.3(LZTR1):c.685T>G (p.Cys229Gly) 886041925 MedGen:CN221809 22 21344708 21344708 T G 264980 single nucleotide variant NM_006767.3(LZTR1):c.685T>G (p.Cys229Gly) 886041925 MedGen:CN221809 22 20990419 20990419 T G 265123 single nucleotide variant NM_006767.3(LZTR1):c.455T>C (p.Leu152Pro) 886041770 MedGen:CN169374 22 21342353 21342353 T C 265123 single nucleotide variant NM_006767.3(LZTR1):c.455T>C (p.Leu152Pro) 886041770 MedGen:CN169374 22 20988064 20988064 T C 265125 single nucleotide variant NM_006767.3(LZTR1):c.509+1G>T 886041542 MedGen:CN221809 22 21342408 21342408 G T 265125 single nucleotide variant NM_006767.3(LZTR1):c.509+1G>T 886041542 MedGen:CN221809 22 20988119 20988119 G T 274206 single nucleotide variant NM_006767.3(LZTR1):c.1084C>T (p.Arg362Ter) 189150283 MedGen:C3810283,OMIM:615670 22 20992304 20992304 C T 274206 single nucleotide variant NM_006767.3(LZTR1):c.1084C>T (p.Arg362Ter) 189150283 MedGen:C3810283,OMIM:615670 22 21346593 21346593 C T 360463 single nucleotide variant NM_006767.3(LZTR1):c.1750G>A (p.Glu584Lys) 369697241 MedGen:CN169374 22 20994692 20994692 G A 360463 single nucleotide variant NM_006767.3(LZTR1):c.1750G>A (p.Glu584Lys) 369697241 MedGen:CN169374 22 21348981 21348981 G A 360505 single nucleotide variant NM_006767.3(LZTR1):c.1234C>T (p.Arg412Cys) 747430075 MedGen:CN169374 22 20992878 20992878 C T 360505 single nucleotide variant NM_006767.3(LZTR1):c.1234C>T (p.Arg412Cys) 747430075 MedGen:CN169374 22 21347167 21347167 C T 360514 duplication NM_006767.3(LZTR1):c.27dupG (p.Gln10Alafs) 1057517924 MedGen:CN221809 22 21336687 21336687 G GG 360514 duplication NM_006767.3(LZTR1):c.27dupG (p.Gln10Alafs) 1057517924 MedGen:CN221809 22 20982398 20982398 G GG 360521 single nucleotide variant NM_006767.3(LZTR1):c.344C>T (p.Pro115Leu) 756852884 MedGen:CN169374 22 20987527 20987527 C T 360521 single nucleotide variant NM_006767.3(LZTR1):c.344C>T (p.Pro115Leu) 756852884 MedGen:CN169374 22 21341816 21341816 C T 360522 single nucleotide variant NM_006767.3(LZTR1):c.737A>C (p.Gln246Pro) 1057518336 MedGen:CN221809 22 20990471 20990471 A C 360522 single nucleotide variant NM_006767.3(LZTR1):c.737A>C (p.Gln246Pro) 1057518336 MedGen:CN221809 22 21344760 21344760 A C 360524 deletion NM_006767.3(LZTR1):c.774delT (p.Phe258Leufs) 1057518077 MedGen:CN221809 22 20990508 20990508 T - 360524 deletion NM_006767.3(LZTR1):c.774delT (p.Phe258Leufs) 1057518077 MedGen:CN221809 22 21344797 21344797 T - 360613 single nucleotide variant NM_006767.3(LZTR1):c.2378T>A (p.Leu793Gln) 1057518130 MedGen:CN169374 22 20996938 20996938 T A 360613 single nucleotide variant NM_006767.3(LZTR1):c.2378T>A (p.Leu793Gln) 1057518130 MedGen:CN169374 22 21351227 21351227 T A

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 22 21346485 rs112544 T C rs112544 8.96E-07 ALPHA-TOCOPHEROL BETA CAROTENE|BETA-CAROTENE 15,15'-MONOOXYGENASE|BCMO1 PROTEIN, HUMAN|CAROTENOIDS Carotenoid and tocopherol levels HPOID:0100514|HPOID:0008372 DOID:10257|DOID:4026 T,C intron GWASdb_drug 22 21346485 rs112544 T C rs112544 8.96E-07 Carotenoid and tocopherol levels HPOID:0100514|HPOID:0008372 DOID:10257|DOID:4026 T,C intron GWASdb_trait 22 21346719 rs756876 A C rs756876 2.91E-05 Blood Pressure HPOID:0011025 DOID:10763 C intron GWASdb_trait 22 21349579 rs178293 C T rs178293 1.10E-16 Progranulin levels HPOID:0011018 DOID:9255 C intron GWASdb_trait 22 21349579 rs178293 C T rs178293 1.10E-16 Myocardial infarction HPOID:0001658 DOID:5844 C intron GWASdb_trait 22 21352120 rs3747081 G A rs3747081 6.81E-06 Osteoarthritis HPOID:0002758 DOID:8398 G UTR-3 GWASdb_trait 22 21352120 rs3747081 G A rs3747081 6.82E-05 Blood Pressure HPOID:0011025 DOID:10763 G UTR-3 GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000099949.18 LZTR1 600574