Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 97410 single nucleotide variant NM_001135647.1(FAM53C):c.490C>T (p.Pro164Ser) 386352301 MedGen:CN221809 5 137680867 137680867 C T 97410 single nucleotide variant NM_001135647.1(FAM53C):c.490C>T (p.Pro164Ser) 386352301 MedGen:CN221809 5 138345178 138345178 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 5 137684732 rs1052648 G A rs1052648 9.65E-05 Schizophrenia HPOID:0100753 DOID:5419 G UTR-3 GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000120709.10 FAM53C 609372