Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 23826 single nucleotide variant NM_000107.2(DDB2):c.730A>G (p.Lys244Glu) 121434639 MedGen:C1848411,OMIM:278740,SNOMED CT:C1848411 11 47256335 47256335 A G 23826 single nucleotide variant NM_000107.2(DDB2):c.730A>G (p.Lys244Glu) 121434639 MedGen:C1848411,OMIM:278740,SNOMED CT:C1848411 11 47234784 47234784 A G 23827 single nucleotide variant NM_000107.2(DDB2):c.818G>A (p.Arg273His) 121434640 MedGen:C1848411,OMIM:278740,SNOMED CT:C1848411 11 47256423 47256423 G A 23827 single nucleotide variant NM_000107.2(DDB2):c.818G>A (p.Arg273His) 121434640 MedGen:C1848411,OMIM:278740,SNOMED CT:C1848411 11 47234872 47234872 G A 23828 single nucleotide variant NM_000107.2(DDB2):c.937C>T (p.Arg313Ter) 121434641 MedGen:C1848411,OMIM:278740,SNOMED CT:C1848411 11 47256877 47256877 C T 23828 single nucleotide variant NM_000107.2(DDB2):c.937C>T (p.Arg313Ter) 121434641 MedGen:C1848411,OMIM:278740,SNOMED CT:C1848411 11 47235326 47235326 C T 23829 single nucleotide variant NM_000107.2(DDB2):c.919G>T (p.Asp307Tyr) 121434642 MedGen:C1848411,OMIM:278740,SNOMED CT:C1848411 11 47256859 47256859 G T 23829 single nucleotide variant NM_000107.2(DDB2):c.919G>T (p.Asp307Tyr) 121434642 MedGen:C1848411,OMIM:278740,SNOMED CT:C1848411 11 47235308 47235308 G T 137699 single nucleotide variant NM_000107.2(DDB2):c.319G>A (p.Ala107Thr) 11537594 MedGen:CN169374 11 47238463 47238463 G A 137699 single nucleotide variant NM_000107.2(DDB2):c.319G>A (p.Ala107Thr) 11537594 MedGen:CN169374 11 47216912 47216912 G A 137700 single nucleotide variant NM_000107.2(DDB2):c.1228G>A (p.Ala410Thr) 143049891 MedGen:CN169374 11 47259728 47259728 G A 137700 single nucleotide variant NM_000107.2(DDB2):c.1228G>A (p.Ala410Thr) 143049891 MedGen:CN169374 11 47238177 47238177 G A 139250 single nucleotide variant NM_000107.2(DDB2):c.128-84T>G 56310830 MedGen:CN169374 11 47237803 47237803 T G 139250 single nucleotide variant NM_000107.2(DDB2):c.128-84T>G 56310830 MedGen:CN169374 11 47216252 47216252 T G 139251 single nucleotide variant NM_000107.2(DDB2):c.128-66C>T 186870004 MedGen:CN169374 11 47237821 47237821 C T 139251 single nucleotide variant NM_000107.2(DDB2):c.128-66C>T 186870004 MedGen:CN169374 11 47216270 47216270 C T 314256 single nucleotide variant NM_000107.2(DDB2):c.-120G>A 4647707 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 11 47215017 47215017 G A 314256 single nucleotide variant NM_000107.2(DDB2):c.-120G>A 4647707 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 11 47236568 47236568 G A 314262 single nucleotide variant NM_000107.2(DDB2):c.-31G>C 375840702 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 11 47215106 47215106 G C 314262 single nucleotide variant NM_000107.2(DDB2):c.-31G>C 375840702 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 11 47236657 47236657 G C 314264 single nucleotide variant NM_000107.2(DDB2):c.577G>A (p.Val193Ile) 200406558 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 11 47232934 47232934 G A 314264 single nucleotide variant NM_000107.2(DDB2):c.577G>A (p.Val193Ile) 200406558 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 11 47254485 47254485 G A 314265 single nucleotide variant NM_000107.2(DDB2):c.702+12G>A 55847708 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 11 47256235 47256235 G A 314265 single nucleotide variant NM_000107.2(DDB2):c.702+12G>A 55847708 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 11 47234684 47234684 G A 314270 single nucleotide variant NM_000107.2(DDB2):c.738G>A (p.Thr246=) 144266685 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 11 47234792 47234792 G A 314270 single nucleotide variant NM_000107.2(DDB2):c.738G>A (p.Thr246=) 144266685 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 11 47256343 47256343 G A 314272 single nucleotide variant NM_000107.2(DDB2):c.876C>T (p.Asn292=) 778504979 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 11 47234930 47234930 C T 314272 single nucleotide variant NM_000107.2(DDB2):c.876C>T (p.Asn292=) 778504979 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 11 47256481 47256481 C T 314273 single nucleotide variant NM_000107.2(DDB2):c.905G>A (p.Arg302Gln) 761699363 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 11 47235294 47235294 G A 314273 single nucleotide variant NM_000107.2(DDB2):c.905G>A (p.Arg302Gln) 761699363 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 11 47256845 47256845 G A 314275 single nucleotide variant NM_000107.2(DDB2):c.984G>A (p.Pro328=) 138255134 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 11 47235373 47235373 G A 314275 single nucleotide variant NM_000107.2(DDB2):c.984G>A (p.Pro328=) 138255134 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 11 47256924 47256924 G A 320876 single nucleotide variant NM_000107.2(DDB2):c.1234+9G>A 756484790 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 11 47238192 47238192 G A 320876 single nucleotide variant NM_000107.2(DDB2):c.1234+9G>A 756484790 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 11 47259743 47259743 G A 320885 single nucleotide variant NM_000107.2(DDB2):c.*151C>A 4647760 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 11 47239000 47239000 C A 320885 single nucleotide variant NM_000107.2(DDB2):c.*151C>A 4647760 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 11 47260551 47260551 C A 326895 single nucleotide variant NM_000107.2(DDB2):c.-123T>G 565058800 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 11 47215014 47215014 T G 326895 single nucleotide variant NM_000107.2(DDB2):c.-123T>G 565058800 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 11 47236565 47236565 T G 326899 single nucleotide variant NM_000107.2(DDB2):c.-56A>G 777159854 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 11 47215081 47215081 A G 326899 single nucleotide variant NM_000107.2(DDB2):c.-56A>G 777159854 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 11 47236632 47236632 A G 326904 single nucleotide variant NM_000107.2(DDB2):c.264+8A>G 374094218 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 11 47216480 47216480 A G 326904 single nucleotide variant NM_000107.2(DDB2):c.264+8A>G 374094218 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 11 47238031 47238031 A G 326905 single nucleotide variant NM_000107.2(DDB2):c.930C>T (p.Ser310=) 549041558 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 11 47235319 47235319 C T 326905 single nucleotide variant NM_000107.2(DDB2):c.930C>T (p.Ser310=) 549041558 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 11 47256870 47256870 C T 326907 single nucleotide variant NM_000107.2(DDB2):c.979A>T (p.Ile327Phe) 776075728 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 11 47235368 47235368 A T 326907 single nucleotide variant NM_000107.2(DDB2):c.979A>T (p.Ile327Phe) 776075728 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 11 47256919 47256919 A T 326909 single nucleotide variant NM_000107.2(DDB2):c.1023+9C>T 372842821 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 11 47235421 47235421 C T 326909 single nucleotide variant NM_000107.2(DDB2):c.1023+9C>T 372842821 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 11 47256972 47256972 C T 326910 single nucleotide variant NM_000107.2(DDB2):c.1180A>G (p.Ile394Val) 886048362 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 11 47237993 47237993 A G 326910 single nucleotide variant NM_000107.2(DDB2):c.1180A>G (p.Ile394Val) 886048362 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 11 47259544 47259544 A G 326912 single nucleotide variant NM_000107.2(DDB2):c.*126T>C 554676341 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 11 47238975 47238975 T C 326912 single nucleotide variant NM_000107.2(DDB2):c.*126T>C 554676341 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 11 47260526 47260526 T C 327896 single nucleotide variant NM_000107.2(DDB2):c.914C>A (p.Thr305Asn) 886048361 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 11 47235303 47235303 C A 327896 single nucleotide variant NM_000107.2(DDB2):c.914C>A (p.Thr305Asn) 886048361 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 11 47256854 47256854 C A 327903 single nucleotide variant NM_000107.2(DDB2):c.1070C>T (p.Pro357Leu) 780665825 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 11 47237883 47237883 C T 327903 single nucleotide variant NM_000107.2(DDB2):c.1070C>T (p.Pro357Leu) 780665825 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 11 47259434 47259434 C T 327904 single nucleotide variant NM_000107.2(DDB2):c.*77C>T 1050244 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 11 47238926 47238926 C T 327904 single nucleotide variant NM_000107.2(DDB2):c.*77C>T 1050244 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 11 47260477 47260477 C T 327922 deletion NM_000107.2(DDB2):c.*334_*335delAC 886048363 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 11 47239183 47239184 AC - 327922 deletion NM_000107.2(DDB2):c.*334_*335delAC 886048363 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 11 47260734 47260735 AC -

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 11 47249294 rs2957873 G A rs2957873 1.00E-04 CHOLESTEROL LIPOPROTEINS|TRIGLYCERIDES Lipid levels HPOID:0003119 DOID:3146|DOID:1287|DOID:9970 G intron GWASdb_drug 11 47249294 rs2957873 G A rs2957873 1.60E-04 CHOLESTEROL LIPOPROTEINS|TRIGLYCERIDES Lipid levels HPOID:0003119 DOID:3146|DOID:1287|DOID:9970 G intron GWASdb_drug 11 47249294 rs2957873 G A rs2957873 2.90E-04 CHOLESTEROL LIPOPROTEINS|TRIGLYCERIDES Lipid levels HPOID:0003119 DOID:3146|DOID:1287|DOID:9970 G intron GWASdb_drug 11 47249294 rs2957873 G A rs2957873 3.80E-04 CHOLESTEROL LIPOPROTEINS|TRIGLYCERIDES Lipid levels HPOID:0003119 DOID:3146|DOID:1287|DOID:9970 G intron GWASdb_drug 11 47249294 rs2957873 G A rs2957873 6.90E-06 CHOLESTEROL LIPOPROTEINS|TRIGLYCERIDES Lipid levels HPOID:0003119 DOID:3146|DOID:1287|DOID:9970 G intron GWASdb_drug 11 47249294 rs2957873 G A rs2957873 9.80E-04 CHOLESTEROL LIPOPROTEINS|TRIGLYCERIDES Lipid levels HPOID:0003119 DOID:3146|DOID:1287|DOID:9970 G intron GWASdb_drug 11 47234718 rs2029298 C T rs2029298 4.81E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 G nearGene-5 GWASdb_trait 11 47237680 rs2291120 T C rs2291120 4.00E-04 Progressive supranuclear palsy HPOID:0000605 DOID:678 T intron GWASdb_trait 11 47249294 rs2957873 G A rs2957873 1.00E-04 Lipid levels HPOID:0003119 DOID:3146|DOID:1287|DOID:9970 G intron GWASdb_trait 11 47249294 rs2957873 G A rs2957873 1.60E-04 Lipid levels HPOID:0003119 DOID:3146|DOID:1287|DOID:9970 G intron GWASdb_trait 11 47249294 rs2957873 G A rs2957873 2.90E-04 Lipid levels HPOID:0003119 DOID:3146|DOID:1287|DOID:9970 G intron GWASdb_trait 11 47249294 rs2957873 G A rs2957873 3.80E-04 Lipid levels HPOID:0003119 DOID:3146|DOID:1287|DOID:9970 G intron GWASdb_trait 11 47249294 rs2957873 G A rs2957873 6.90E-06 Lipid levels HPOID:0003119 DOID:3146|DOID:1287|DOID:9970 G intron GWASdb_trait 11 47249294 rs2957873 G A rs2957873 2.04E-05 HDL particle features HPOID:0001626 DOID:1287 G intron GWASdb_trait 11 47252254 rs4647731 T C rs4647731 1.54E-04 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait 11 47259668 rs326222 T C rs326222 2.00E-05 Urinary metabolites HPOID:0000079 DOID:557 T intron GWASdb_trait 11 47260319 rs901746 A G rs901746 1.00E-04 Progressive supranuclear palsy HPOID:0000605 DOID:678 G intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000134574.11 DDB2 600811