Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 226654 duplication NM_001365.4(DLG4):c.277dupT (p.Tyr93Leufs) 869312859 MedGen:CN235864 17 7107520 7107520 A AA 226654 duplication NM_001365.4(DLG4):c.277dupT (p.Tyr93Leufs) 869312859 MedGen:CN235864 17 7204201 7204201 A AA

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 17 7106475 rs408315 A G rs408315 2.58E-12 Metabolite levels HPOID:0001939 DOID:655 G intron GWASdb_trait 17 7118322 rs507506 A G rs507506 2.00E-06 Adiponectin levels HPOID:0011014 DOID:14221|DOID:9970|DOID:9352|DOID:1287 A intron GWASdb_trait 17 7121539 rs41283399 C T rs41283399 1.57E-11 Metabolite levels HPOID:0001939 DOID:655 C intron GWASdb_trait 17 7122340 rs41283401 G A rs41283401 1.54E-11 Metabolite levels HPOID:0001939 DOID:655 G UTR-5 GWASdb_trait 17 7122828 rs41283403 C T rs41283403 1.54E-11 Metabolite levels HPOID:0001939 DOID:655 C UTR-5 GWASdb_trait 17 18139896 rs2746028 G T rs2746028 1.14E-05 Osteoarthritis (knee and hip) HPOID:0002758 DOID:8398 G intron GWASdb_trait 17 18139896 rs2746028 G T rs2746028 1.59E-04 Osteoarthritis (knee and hip) HPOID:0002758 DOID:8398 G intron GWASdb_trait 17 18139896 rs2746028 G T rs2746028 7.07E-04 Osteoarthritis (knee and hip) HPOID:0002758 DOID:8398 G intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000131899.10 LLGL1 600966