Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 224680 single nucleotide variant NM_130446.2(KLHL6):c.268C>G (p.Leu90Val) 548549593 MedGen:C2698259 3 183273174 183273174 G C 224680 single nucleotide variant NM_130446.2(KLHL6):c.268C>G (p.Leu90Val) 548549593 MedGen:C2698259 3 183555386 183555386 G C 224681 single nucleotide variant NM_130446.2(KLHL6):c.247T>C (p.Phe83Leu) 748341250 MedGen:C2698259 3 183273195 183273195 A G 224681 single nucleotide variant NM_130446.2(KLHL6):c.247T>C (p.Phe83Leu) 748341250 MedGen:C2698259 3 183555407 183555407 A G

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 3 183210991 rs1979983 G T rs1979983 6.38E-04 Alzheimer's disease HPOID:0002511 DOID:10652 C intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000172578.11 KLHL6 614214