Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 39938 single nucleotide variant SMARCAD1, IVS1, G-T, +1 -1 MedGen:C1851080,OMIM:136000 na -1 -1 na na 185674 single nucleotide variant SMARCAD1, IVS1, G-A, +1 -1 MedGen:C1851080,OMIM:136000 na -1 -1 na na 185675 single nucleotide variant SMARCAD1, IVS1, T-C, +2 -1 MedGen:C1851080,OMIM:136000 na -1 -1 na na 185676 single nucleotide variant SMARCAD1, IVS1, G-C, +5 -1 MedGen:C1851080,OMIM:136000 na -1 -1 na na 185677 single nucleotide variant SMARCAD1, IVS1, A-T, +3 -1 MedGen:CN221809 na -1 -1 na na 359630 single nucleotide variant NM_001128429.2(SMARCAD1):c.304G>A (p.Val102Ile) 200948051 MedGen:CN169374 4 94226232 94226232 G A 359630 single nucleotide variant NM_001128429.2(SMARCAD1):c.304G>A (p.Val102Ile) 200948051 MedGen:CN169374 4 95147383 95147383 G A

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 4 95153349 rs3106136 T C rs3106136 7.00E-06 CAPECITABINE|FLUOROURACIL ANTIMETABOLITES, ANTINEOPLASTIC|DEOXYCYTIDINE Capecitabine sensitivity HPOID:0003002|HPOID:0002672 DOID:9256|DOID:1612|DOID:5517 A intron GWASdb_drug 4 95128677 rs17374902 T C rs17374902 1.31E-04 Type 2 diabetes HPOID:0005978 DOID:9352 T nearGene-5 GWASdb_trait 4 95146135 rs11097407 G C rs11097407 4.00E-06 Bipolar disorder and schizophrenia HPOID:0007302|HPOID:0100753 DOID:3312|DOID:5419 G intron GWASdb_trait 4 95146135 rs11097407 G C rs11097407 2.46E-05 Schizophrenia HPOID:0100753 DOID:5419 G intron GWASdb_trait 4 95146281 rs2664871 C T rs2664871 2.06E-05 Bipolar disorder and schizophrenia HPOID:0007302|HPOID:0100753 DOID:3312|DOID:5419 C intron GWASdb_trait 4 95146281 rs2664871 C T rs2664871 2.59E-05 Schizophrenia HPOID:0100753 DOID:5419 C intron GWASdb_trait 4 95147055 rs2632401 C G rs2632401 1.02E-05 Bipolar disorder and schizophrenia HPOID:0007302|HPOID:0100753 DOID:3312|DOID:5419 C intron GWASdb_trait 4 95147055 rs2632401 C G rs2632401 1.74E-05 Schizophrenia HPOID:0100753 DOID:5419 C intron GWASdb_trait 4 95152413 rs17303283 T C rs17303283 5.16E-06 Waist-Hip Ratio HPOID:0001513 DOID:9970 T intron GWASdb_trait 4 95153349 rs3106136 T C rs3106136 7.00E-06 Capecitabine sensitivity HPOID:0003002|HPOID:0002672 DOID:9256|DOID:1612|DOID:5517 A intron GWASdb_trait 4 95162960 rs2087170 T G rs2087170 3.03E-05 Bipolar disorder and schizophrenia HPOID:0007302|HPOID:0100753 DOID:3312|DOID:5419 A intron GWASdb_trait 4 95162960 rs2087170 T G rs2087170 3.46E-05 Schizophrenia HPOID:0100753 DOID:5419 A intron GWASdb_trait 4 95168607 rs10516948 C A rs10516948 1.75E-04 Type 2 diabetes HPOID:0005978 DOID:9352 C intron GWASdb_trait 4 95169266 rs10032125 C T rs10032125 1.23E-04 Type 2 diabetes HPOID:0005978 DOID:9352 T intron GWASdb_trait 4 95183216 rs12646184 C T rs12646184 1.19E-05 Bipolar disorder and schizophrenia HPOID:0007302|HPOID:0100753 DOID:3312|DOID:5419 C intron GWASdb_trait 4 95183216 rs12646184 C T rs12646184 1.96E-05 Schizophrenia HPOID:0100753 DOID:5419 C intron GWASdb_trait 4 95192461 rs6532476 C A rs6532476 7.19E-05 ldl cholesterol HPOID:0010979 DOID:1936|DOID:3393 A intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000163104.17 SMARCAD1 612761