Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 260978 single nucleotide variant NM_001273.3(CHD4):c.4822G>A (p.Val1608Ile) 201992075 MedGen:CN238765,OMIM:617159 12 6690297 6690297 C T 260978 single nucleotide variant NM_001273.3(CHD4):c.4822G>A (p.Val1608Ile) 201992075 MedGen:CN238765,OMIM:617159 12 6581131 6581131 C T 260979 single nucleotide variant NM_001273.3(CHD4):c.3203G>A (p.Arg1068His) 886039915 MedGen:CN238765,OMIM:617159 12 6700879 6700879 C T 260979 single nucleotide variant NM_001273.3(CHD4):c.3203G>A (p.Arg1068His) 886039915 MedGen:CN238765,OMIM:617159 12 6591713 6591713 C T 260980 single nucleotide variant NM_001273.3(CHD4):c.2552C>A (p.Ser851Tyr) 886039916 MedGen:CN238765,OMIM:617159 12 6593191 6593191 G T 260980 single nucleotide variant NM_001273.3(CHD4):c.2552C>A (p.Ser851Tyr) 886039916 MedGen:CN238765,OMIM:617159 12 6702357 6702357 G T 260981 single nucleotide variant NM_001273.3(CHD4):c.3380G>A (p.Arg1127Gln) 886039917 MedGen:CN238765,OMIM:617159 12 6588383 6588383 C T 260981 single nucleotide variant NM_001273.3(CHD4):c.3380G>A (p.Arg1127Gln) 886039917 MedGen:CN238765,OMIM:617159 12 6697549 6697549 C T 260982 single nucleotide variant NM_001273.3(CHD4):c.3518G>T (p.Arg1173Leu) 886039918 MedGen:CN238765,OMIM:617159 12 6697063 6697063 C A 260982 single nucleotide variant NM_001273.3(CHD4):c.3518G>T (p.Arg1173Leu) 886039918 MedGen:CN238765,OMIM:617159 12 6587897 6587897 C A 260983 single nucleotide variant NM_001273.3(CHD4):c.3443G>T (p.Trp1148Leu) 886039919 MedGen:CN238765,OMIM:617159 12 6588320 6588320 C A 260983 single nucleotide variant NM_001273.3(CHD4):c.3443G>T (p.Trp1148Leu) 886039919 MedGen:CN238765,OMIM:617159 12 6697486 6697486 C 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 12 6683287 rs1057510 G A rs1057510 6.00E-06 Myopia (pathological) HPOID:0000545 DOID:11830 A intron GWASdb_trait 12 6691452 rs7316626 G A rs7316626 1.10E-05 HIV-1 control HPOID:0002721 DOID:526 G intron GWASdb_trait 12 6697353 rs12310569 G A rs12310569 8.70E-05 Interstitial lung disease HPOID:0002088 DOID:3082 G intron GWASdb_trait 12 6709059 rs11539542 G A rs11539542 3.30E-05 HIV-1 control HPOID:0002721 DOID:526 C cds-synon GWASdb_trait 12 6713636 rs12099908 C A rs12099908 1.10E-05 HIV-1 control HPOID:0002721 DOID:526 A intron GWASdb_trait 12 6714668 rs1639123 T C rs1639123 2.10E-05 HIV-1 control HPOID:0002721 DOID:526 C intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000111642.14 CHD4 603277