Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 21681 single nucleotide variant NM_198433.2(AURKA):c.91T>A (p.Phe31Ile) 2273535 - 20 54961541 54961541 A T 21681 single nucleotide variant NM_198433.2(AURKA):c.91T>A (p.Phe31Ile) 2273535 - 20 56386485 56386485 A 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 20 54947050 rs16979829 T G rs16979829 9.13E-05 Parent of origin effect on language impairment (maternal) HPOID:0002463 DOID:93 G intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000087586.17 AURKA 603072