Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 154662 copy number loss GRCh38/hg38 6q16.3(chr6:104501910-104729309)x1 -1 - 6 104949785 105177184 na na 154662 copy number loss GRCh38/hg38 6q16.3(chr6:104501910-104729309)x1 -1 - 6 104501910 104729309 na na 154662 copy number loss GRCh38/hg38 6q16.3(chr6:104501910-104729309)x1 -1 - 6 105056478 105283877 na na 163913 copy number gain GRCh38/hg38 6q16.3(chr6:104094035-104885245)x3 -1 - 6 104541910 105333120 na na 163913 copy number gain GRCh38/hg38 6q16.3(chr6:104094035-104885245)x3 -1 - 6 104094035 104885245 na na 163913 copy number gain GRCh38/hg38 6q16.3(chr6:104094035-104885245)x3 -1 - 6 104648603 105439813 na na 223018 single nucleotide variant NM_020771.3(HACE1):c.655C>T (p.Arg219Ter) 869025280 MedGen:CN235103,OMIM:616756 6 104796988 104796988 G A 223018 single nucleotide variant NM_020771.3(HACE1):c.655C>T (p.Arg219Ter) 869025280 MedGen:CN235103,OMIM:616756 6 105244863 105244863 G A 223019 single nucleotide variant NM_020771.3(HACE1):c.2242C>T (p.Arg748Ter) 869025281 MedGen:CN235103,OMIM:616756 6 104750442 104750442 G A 223019 single nucleotide variant NM_020771.3(HACE1):c.2242C>T (p.Arg748Ter) 869025281 MedGen:CN235103,OMIM:616756 6 105198317 105198317 G A 223020 insertion NM_020771.3(HACE1):c.2019_2020insTTTAGGTATTTTTAGGTATT (p.Pro674Phefs) 869025282 MedGen:CN235103,OMIM:616756 6 104771384 104771385 - AATACCTAAAAATACCTAAA 223020 insertion NM_020771.3(HACE1):c.2019_2020insTTTAGGTATTTTTAGGTATT (p.Pro674Phefs) 869025282 MedGen:CN235103,OMIM:616756 6 105219259 105219260 - AATACCTAAAAATACCTAAA 223021 deletion NM_020771.3(HACE1):c.2490_2492delTCT (p.Leu832del) 869025283 MedGen:CN235103,OMIM:616756 6 104744181 104744183 AGA - 223021 deletion NM_020771.3(HACE1):c.2490_2492delTCT (p.Leu832del) 869025283 MedGen:CN235103,OMIM:616756 6 105192056 105192058 AGA - 223022 deletion NM_020771.3(HACE1):c.1852_1853delCA (p.Gln618Valfs) 751809418 MedGen:CN235103,OMIM:616756 6 105224627 105224628 TG - 223022 deletion NM_020771.3(HACE1):c.1852_1853delCA (p.Gln618Valfs) 751809418 MedGen:CN235103,OMIM:616756 6 104776752 104776753 TG - 223023 single nucleotide variant NM_020771.3(HACE1):c.454C>T (p.Gln152Ter) 869025284 MedGen:CN235103,OMIM:616756 6 104833122 104833122 G A 223023 single nucleotide variant NM_020771.3(HACE1):c.454C>T (p.Gln152Ter) 869025284 MedGen:CN235103,OMIM:616756 6 105280997 105280997 G A 223024 single nucleotide variant NM_020771.3(HACE1):c.805C>T (p.Arg269Ter) 750371878 MedGen:CN235103,OMIM:616756 6 104796666 104796666 G A 223024 single nucleotide variant NM_020771.3(HACE1):c.805C>T (p.Arg269Ter) 750371878 MedGen:CN235103,OMIM:616756 6 105244541 105244541 G A 223025 single nucleotide variant NM_020771.3(HACE1):c.240C>A (p.Cys80Ter) 761086584 MedGen:CN235103,OMIM:616756 6 104849228 104849228 G T 223025 single nucleotide variant NM_020771.3(HACE1):c.240C>A (p.Cys80Ter) 761086584 MedGen:CN235103,OMIM:616756 6 105297103 105297103 G T

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 6 105180785 rs4336470 C T rs4336470 2.00E-04 TOPIRAMATE|FRUCTOSE ANTICONVULSANTS Cognitive impairment induced by topiramate HPOID:0100543 DOID:1561 T intron GWASdb_drug 6 105184640 rs9404576 T G rs9404576 2.00E-04 TOPIRAMATE|FRUCTOSE ANTICONVULSANTS Cognitive impairment induced by topiramate HPOID:0100543 DOID:1561 G intron GWASdb_drug 6 105191814 rs6942231 C T rs6942231 1.60E-04 THYROTROPIN CREATININE|CYSTATIN C|CYSTATINS|CST3 PROTEIN, HUMAN Kidney function and endocine traits HPOID:0000083 DOID:557 T intron GWASdb_drug 6 105232233 rs9322817 A C rs9322817 7.00E-06 THYROTROPIN CREATININE|CYSTATIN C|CYSTATINS|CST3 PROTEIN, HUMAN Thyroid stimulating hormone HPOID:0011747 DOID:7166|DOID:7998 A intron GWASdb_drug 6 105180785 rs4336470 C T rs4336470 2.70E-04 Hemoglobin concentration HPOID:0011902 DOID:2860 T intron GWASdb_trait 6 105180785 rs4336470 C T rs4336470 2.00E-04 Cognitive impairment induced by topiramate HPOID:0100543 DOID:1561 T intron GWASdb_trait 6 105180785 rs4336470 C T rs4336470 3.00E-11 Neuroblastoma HPOID:0003006 DOID:769 T intron GWASdb_trait 6 105180785 rs4336470 C T rs4336470 7.91E-05 Neuroblastoma HPOID:0003006 DOID:769 T intron GWASdb_trait 6 105184640 rs9404576 T G rs9404576 1.62E-04 Hemoglobin concentration HPOID:0011902 DOID:2860 G intron GWASdb_trait 6 105184640 rs9404576 T G rs9404576 2.00E-04 Cognitive impairment induced by topiramate HPOID:0100543 DOID:1561 G intron GWASdb_trait 6 105184640 rs9404576 T G rs9404576 1.80E-10 Neuroblastoma HPOID:0003006 DOID:769 G intron GWASdb_trait 6 105191814 rs6942231 C T rs6942231 1.60E-04 Kidney function and endocine traits HPOID:0000083 DOID:557 T intron GWASdb_trait 6 105216695 rs9322816 T C rs9322816 3.71E-04 Hemoglobin concentration HPOID:0011902 DOID:2860 T intron GWASdb_trait 6 105223864 rs733724 G A rs733724 3.00E-07 Multiple sclerosis HPOID:0000096|HPOID:0001967|HPOID:0009741|HPOID:0008664|HPOID:0001150|HPOID:0005450|HPOID:0005652|HPOID:0005686|HPOID:0005789|HPOID:0100923|HPOID:0100925|HPOID:0006623|HPOID:0100861|HPOID:0002694|HPOID:0004979|HPOID:0003881|HPOID:0003991|HPOID:0003854|HPOID:0003933|HPOID:0004030|HPOID:0100899|HPOID:0002634 DOID:2377 G intron GWASdb_trait 6 105229646 rs17065302 C G rs17065302 0.0000048 Equol producers as measured by serum equol concentrations NA NA C intron GWASdb_trait 6 105232233 rs9322817 A C rs9322817 7.00E-06 Thyroid stimulating hormone HPOID:0011747 DOID:7166|DOID:7998 A intron GWASdb_trait 6 105236302 rs11759010 T G rs11759010 0.0000038 Equol producers as measured by serum equol concentrations NA NA T intron GWASdb_trait 6 105266118 rs4079063 A G rs4079063 1.30E-07 Neuroblastoma HPOID:0003006 DOID:769 G intron GWASdb_trait 6 105288125 rs6927608 A C rs6927608 0.0000025 Equol producers as measured by serum equol concentrations NA NA A intron GWASdb_trait 6 105295535 rs4946645 C G rs4946645 0.000003 Equol producers as measured by serum equol concentrations NA NA C intron GWASdb_trait 6 105300570 rs2499663 C T rs2499663 1.60E-07 Neuroblastoma HPOID:0003006 DOID:769 C intron GWASdb_trait 6 105306144 rs4245525 C T rs4245525 0.0000079 Equol producers as measured by serum equol concentrations NA NA C intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000085382.11 HACE1 610876