Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 74791 copy number loss GRCh38/hg38 4q21.23(chr4:84669688-84856844)x1 -1 - 4 85590841 85777997 na na 74791 copy number loss GRCh38/hg38 4q21.23(chr4:84669688-84856844)x1 -1 - 4 84669688 84856844 na na 74791 copy number loss GRCh38/hg38 4q21.23(chr4:84669688-84856844)x1 -1 - 4 85809865 85997021 na na 171383 single nucleotide variant NM_014991.4(WDFY3):c.10260-7C>G 193920758 MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 4 84677403 84677403 G C 171383 single nucleotide variant NM_014991.4(WDFY3):c.10260-7C>G 193920758 MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 4 85598556 85598556 G C 171384 single nucleotide variant NM_014991.4(WDFY3):c.2630C>A (p.Ala877Asp) 193920805 MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 4 84801842 84801842 G T 171384 single nucleotide variant NM_014991.4(WDFY3):c.2630C>A (p.Ala877Asp) 193920805 MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 4 85722995 85722995 G T 237532 duplication NM_014991.4(WDFY3):c.8864_8867dupTTGG (p.Phe2957Trpfs) 878853167 Human Phenotype Ontology:HP:0000729,MedGen:CN000686;Human Phenotype Ontology:HP:0000750,MedGen:CN000706;MedGen:CN236729 4 85617157 85617160 CCAA CCAACCAA 237532 duplication NM_014991.4(WDFY3):c.8864_8867dupTTGG (p.Phe2957Trpfs) 878853167 Human Phenotype Ontology:HP:0000729,MedGen:CN000686;Human Phenotype Ontology:HP:0000750,MedGen:CN000706;MedGen:CN236729 4 84696004 84696007 CCAA CCAACCAA

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 85634488 rs13108722 T C rs13108722 3.59E-04 Alzheimer's disease (late onset) HPOID:0002511 DOID:10652 T intron GWASdb_trait 4 85637635 rs2015631 T C rs2015631 2.40E-05 Duodenal ulcer HPOID:0002588 DOID:1724 T intron GWASdb_trait 4 85640424 rs10516726 T C rs10516726 8.24E-04 Type 2 diabetes HPOID:0005978 DOID:9352 T intron GWASdb_trait 4 85662060 rs6825852 T C rs6825852 3.28E-04 Alzheimer's disease (late onset) HPOID:0002511 DOID:10652 T intron GWASdb_trait 4 85664294 rs894533 C T rs894533 3.12E-05 Duodenal ulcer HPOID:0002588 DOID:1724 T intron GWASdb_trait 4 85676099 rs12511112 C T rs12511112 6.24E-04 Type 2 diabetes HPOID:0005978 DOID:9352 C intron GWASdb_trait 4 85713972 rs6821491 T C rs6821491 8.41E-04 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait 4 85734049 rs1484662 G A rs1484662 3.12E-05 Duodenal ulcer HPOID:0002588 DOID:1724 G intron GWASdb_trait 4 85770794 rs1872321 C T rs1872321 6.19E-27 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait 4 85782946 rs11726635 G A rs11726635 2.05E-04 Amyotrophic Lateral Sclerosis HPOID:0007354 DOID:332 A intron GWASdb_trait 4 85782946 rs11726635 G A rs11726635 3.12E-05 Duodenal ulcer HPOID:0002588 DOID:1724 A intron GWASdb_trait 4 85844157 rs10516733 G A rs10516733 3.07E-05 Duodenal ulcer HPOID:0002588 DOID:1724 C intron GWASdb_trait 4 85866802 rs12510410 T C rs12510410 4.94E-04 Type 2 diabetes HPOID:0005978 DOID:9352 C intron GWASdb_trait 4 85867313 rs6847811 C G rs6847811 4.60E-04 Type 2 diabetes HPOID:0005978 DOID:9352 G intron GWASdb_trait 4 85870625 rs6820517 C T rs6820517 4.50E-04 Alzheimer's disease (late onset) HPOID:0002511 DOID:10652 C intron GWASdb_trait 4 85877561 rs7699226 T C rs7699226 4.88E-04 Type 2 diabetes HPOID:0005978 DOID:9352 G intron GWASdb_trait