Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 139343 single nucleotide variant NM_001042603.2(KDM5A):c.4522C>T (p.Arg1508Trp) 367537993 MedGen:CN221809 12 402269 402269 G A 139343 single nucleotide variant NM_001042603.2(KDM5A):c.4522C>T (p.Arg1508Trp) 367537993 MedGen:CN221809 12 293103 293103 G A 162386 copy number gain GRCh38/hg38 12p13.33(chr12:352383-366602)x3 -1 - 12 461549 475768 na na 162386 copy number gain GRCh38/hg38 12p13.33(chr12:352383-366602)x3 -1 - 12 352383 366602 na na 162386 copy number gain GRCh38/hg38 12p13.33(chr12:352383-366602)x3 -1 - 12 331810 346029 na na

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 12 421394 rs11062357 T C rs11062357 2.02E-04 Tourette syndrome HPOID:0000709 DOID:11119|DOID:10933|DOID:1094 T intron GWASdb_trait 12 427575 rs11062385 A G rs11062385 3.68E-04 Amyotrophic Lateral Sclerosis HPOID:0007354 DOID:332 T missense GWASdb_trait 12 493900 rs1860360 C T rs1860360 9.45E-04 Amyotrophic Lateral Sclerosis HPOID:0007354 DOID:332 T intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000073614.12 KDM5A 180202