Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 178798 single nucleotide variant NM_005886.2(KATNB1):c.1604C>T (p.Ser535Leu) 730880257 MedGen:CN225703,OMIM:616212 16 57755878 57755878 C T 178798 single nucleotide variant NM_005886.2(KATNB1):c.1604C>T (p.Ser535Leu) 730880257 MedGen:CN225703,OMIM:616212 16 57789790 57789790 C T 178799 single nucleotide variant NM_005886.2(KATNB1):c.1619T>G (p.Leu540Arg) 730880258 MedGen:CN225703,OMIM:616212 16 57755893 57755893 T G 178799 single nucleotide variant NM_005886.2(KATNB1):c.1619T>G (p.Leu540Arg) 730880258 MedGen:CN225703,OMIM:616212 16 57789805 57789805 T G 178800 deletion NM_005886.2(KATNB1):c.447delC (p.Val150Cysfs) 879255517 MedGen:CN225703,OMIM:616212 16 57785567 57785567 C - 178800 deletion NM_005886.2(KATNB1):c.447delC (p.Val150Cysfs) 879255517 MedGen:CN225703,OMIM:616212 16 57751655 57751655 C - 178801 single nucleotide variant NM_005886.2(KATNB1):c.1A>G (p.Met1Val) 879255518 MedGen:CN225703,OMIM:616212 16 57771156 57771156 A G 178801 single nucleotide variant NM_005886.2(KATNB1):c.1A>G (p.Met1Val) 879255518 MedGen:CN225703,OMIM:616212 16 57737244 57737244 A G 178802 single nucleotide variant NM_005886.2(KATNB1):c.97G>T (p.Gly33Trp) 730880259 MedGen:CN225703,OMIM:616212 16 57741743 57741743 G T 178802 single nucleotide variant NM_005886.2(KATNB1):c.97G>T (p.Gly33Trp) 730880259 MedGen:CN225703,OMIM:616212 16 57775655 57775655 G T 178803 single nucleotide variant NM_005886.2(KATNB1):c.432+1G>A 879255519 MedGen:CN225703,OMIM:616212 16 57785215 57785215 G A 178803 single nucleotide variant NM_005886.2(KATNB1):c.432+1G>A 879255519 MedGen:CN225703,OMIM:616212 16 57751303 57751303 G 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 16 57780156 rs2967154 T C rs2967154 6.49E-05 Multiple complex diseases HPOID:0000118 NA C intron GWASdb_trait 16 57787027 rs12922275 C T rs12922275 1.96E-05 Basophils HPOID:0001912 DOID:74|DOID:114 C cds-synon GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000140854.12 KATNB1 602703