Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 157310 copy number gain GRCh38/hg38 13q12.13(chr13:26842357-27067092)x3 -1 - 13 27416494 27641229 na na 157310 copy number gain GRCh38/hg38 13q12.13(chr13:26842357-27067092)x3 -1 - 13 26842357 27067092 na na 157310 copy number gain GRCh38/hg38 13q12.13(chr13:26842357-27067092)x3 -1 - 13 26314494 26539229 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 13 27680564 rs143134312 A AC rs565707 7.30E-06 Type 2 diabetes HPOID:0005978 DOID:9352 C intron GWASdb_trait 13 27680564 rs565707 A C rs565707 7.30E-06 Type 2 diabetes HPOID:0005978 DOID:9352 C intron GWASdb_trait 13 27720562 rs7337844 C T rs7337844 2.08E-04 Schizophrenia HPOID:0100753 DOID:5419 T intron GWASdb_trait 13 27737031 rs7984685 C T rs7984685 2.20E-05 Type 2 diabetes HPOID:0005978 DOID:9352 T intron GWASdb_trait 13 27739643 rs7998347 C T rs7998347 2.40E-05 Type 2 diabetes HPOID:0005978 DOID:9352 T intron GWASdb_trait