Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 204074 single nucleotide variant NM_017596.3(KIF21B):c.3601C>T (p.Arg1201Trp) 796052152 MedGen:C0023976,SNOMED CT:C0023976 1 200956137 200956137 G A 204074 single nucleotide variant NM_017596.3(KIF21B):c.3601C>T (p.Arg1201Trp) 796052152 MedGen:C0023976,SNOMED CT:C0023976 1 200987009 200987009 G A 204075 single nucleotide variant NM_017596.3(KIF21B):c.2224G>A (p.Glu742Lys) 750865418 MedGen:C0023976,SNOMED CT:C0023976 1 200965377 200965377 C T 204075 single nucleotide variant NM_017596.3(KIF21B):c.2224G>A (p.Glu742Lys) 750865418 MedGen:C0023976,SNOMED CT:C0023976 1 200996249 200996249 C 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 1 200957032 rs10494828 G A rs10494828 5.13E-05 Age-related macular degeneration HPOID:0007868 DOID:10871 C intron GWASdb_trait 1 200960307 rs2297909 G A rs2297909 8.10E-10 Crohn's disease HPOID:0100280 DOID:8778 C intron GWASdb_trait 1 200960307 rs2297909 G A rs2297909 5.00E-12 Ankylosing spondylitis HPOID:0003306 DOID:7147 C intron GWASdb_trait 1 200960307 rs2297909 G A rs2297909 2.00E-06 Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined) HPOID:0000729|HPOID:0007018|HPOID:0007302|HPOID:0100753 DOID:0060041|DOID:1094|DOID:3312|DOID:1470|DOID:5419 C intron GWASdb_trait 1 200980698 rs6687260 A G rs6687260 5.60E-04 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait 1 200984022 rs6700264 A G rs6700264 6.66E-04 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait 1 200984480 rs12122721 G A rs12122721 9.90E-06 Multiple complex diseases HPOID:0000118 NA A intron GWASdb_trait 1 200984480 rs12122721 G A rs12122721 1.00E-06 Multiple sclerosis HPOID:0000096|HPOID:0001967|HPOID:0009741|HPOID:0008664|HPOID:0001150|HPOID:0005450|HPOID:0005652|HPOID:0005686|HPOID:0005789|HPOID:0100923|HPOID:0100925|HPOID:0006623|HPOID:0100861|HPOID:0002694|HPOID:0004979|HPOID:0003881|HPOID:0003991|HPOID:0003854|HPOID:0003933|HPOID:0004030|HPOID:0100899|HPOID:0002634 DOID:2377 A intron GWASdb_trait

Disease associated variation - GWAS Central Study Name Source Marker Accession Chromosome Marker Start Marker Stop Alleles Gene Section P-value -log(p-value) GWAS of prostate cancer rs957957 1 200987798 200987798 intronic 0.864568 0.0632008429182685 GWAS of prostate cancer rs12122721 1 200984480 200984480 intronic 0.533853 0.272578312405145 GWAS of prostate cancer rs2297909 1 200960307 200960307 intronic 0.427034 0.3695375455264 GWAS of prostate cancer rs10800750 1 200964578 200964578 intronic 0.392604 0.406045279954866 GWAS of prostate cancer rs10494829 1 200938029 200938029 downstream 0.271333 0.566497383362093

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000116852.14 KIF21B 608322