Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 18590 NT expansion NM_004993.5(ATXN3):c.892_894CAG(8_36) (p.Gln298_Gln305=) 193922928 MedGen:C0024408,OMIM:109150,Orphanet:ORPHA98757,SNOMED CT:C0024408;MedGen:C3160718,OMIM:168600,SNOMED CT:C3160718 14 92537355 92537357 CTG na 18590 NT expansion NM_004993.5(ATXN3):c.892_894CAG(8_36) (p.Gln298_Gln305=) 193922928 MedGen:C0024408,OMIM:109150,Orphanet:ORPHA98757,SNOMED CT:C0024408;MedGen:C3160718,OMIM:168600,SNOMED CT:C3160718 14 92071011 92071013 CTG na 133959 single nucleotide variant NM_004993.5(ATXN3):c.492C>T (p.Val164=) 16999141 MedGen:CN169374 14 92549586 92549586 G A 133959 single nucleotide variant NM_004993.5(ATXN3):c.492C>T (p.Val164=) 16999141 MedGen:CN169374 14 92083242 92083242 G A 133960 single nucleotide variant NM_004993.5(ATXN3):c.634G>A (p.Val212Met) 1048755 MedGen:CN169374 14 92548785 92548785 C T 133960 single nucleotide variant NM_004993.5(ATXN3):c.634G>A (p.Val212Met) 1048755 MedGen:CN169374 14 92082441 92082441 C T 133961 single nucleotide variant NM_004993.5(ATXN3):c.882A>G (p.Gln294=) 12896589 MedGen:CN169374 14 92537388 92537388 T C 133961 single nucleotide variant NM_004993.5(ATXN3):c.882A>G (p.Gln294=) 12896589 MedGen:CN169374 14 92071044 92071044 T C 133962 single nucleotide variant NM_004993.5(ATXN3):c.883A>C (p.Lys295Gln) 12896588 MedGen:CN169374 14 92537387 92537387 T G 133962 single nucleotide variant NM_004993.5(ATXN3):c.883A>C (p.Lys295Gln) 12896588 MedGen:CN169374 14 92071043 92071043 T G 133963 single nucleotide variant NM_004993.5(ATXN3):c.891A>G (p.Gln297=) 12896583 MedGen:CN169374 14 92537379 92537379 T C 133963 single nucleotide variant NM_004993.5(ATXN3):c.891A>G (p.Gln297=) 12896583 MedGen:CN169374 14 92071035 92071035 T C 133964 single nucleotide variant NM_004993.5(ATXN3):c.916G>C (p.Gly306Arg) 12895357 MedGen:C0024408,OMIM:109150,Orphanet:ORPHA98757,SNOMED CT:C0024408;MedGen:CN169374 14 92537354 92537354 C G 133964 single nucleotide variant NM_004993.5(ATXN3):c.916G>C (p.Gly306Arg) 12895357 MedGen:C0024408,OMIM:109150,Orphanet:ORPHA98757,SNOMED CT:C0024408;MedGen:CN169374 14 92071010 92071010 C G 206584 NT expansion NM_004993.5(ATXN3):c.886_888CAG(12_44) (p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln) -1 MedGen:C0024408,OMIM:109150,Orphanet:ORPHA98757,SNOMED CT:C0024408 14 92537382 92537384 CTG na 206584 NT expansion NM_004993.5(ATXN3):c.886_888CAG(12_44) (p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln) -1 MedGen:C0024408,OMIM:109150,Orphanet:ORPHA98757,SNOMED CT:C0024408 14 92071038 92071040 CTG na 206585 NT expansion NM_004993.5(ATXN3):c.886_888CAG(60_86) (p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln) -1 MedGen:C0024408,OMIM:109150,Orphanet:ORPHA98757,SNOMED CT:C0024408 14 92537382 92537384 CTG na 206585 NT expansion NM_004993.5(ATXN3):c.886_888CAG(60_86) (p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln) -1 MedGen:C0024408,OMIM:109150,Orphanet:ORPHA98757,SNOMED CT:C0024408 14 92071038 92071040 CTG na 208141 indel NM_004993.5(ATXN3):c.916delGins20 (p.?) 797045410 MedGen:CN169374 14 92071010 92071010 na na 208141 indel NM_004993.5(ATXN3):c.916delGins20 (p.?) 797045410 MedGen:CN169374 14 92537354 92537354 na na 208142 deletion NM_004993.5(ATXN3):c.882_884delAAA (p.Lys295del) 141993435 MedGen:CN169374 14 92071042 92071044 TTT - 208142 deletion NM_004993.5(ATXN3):c.882_884delAAA (p.Lys295del) 141993435 MedGen:CN169374 14 92537386 92537388 TTT - 208143 single nucleotide variant NM_004993.5(ATXN3):c.357C>G (p.His119Gln) 754873504 MedGen:CN169374 14 92093282 92093282 G C 208143 single nucleotide variant NM_004993.5(ATXN3):c.357C>G (p.His119Gln) 754873504 MedGen:CN169374 14 92559626 92559626 G C 215486 insertion NM_004993.5(ATXN3):c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG (p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGln) 763541221 MedGen:CN169374 14 92071010 92071011 - CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG 215486 insertion NM_004993.5(ATXN3):c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG (p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGln) 763541221 MedGen:CN169374 14 92537354 92537355 - CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG

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 14 92534915 rs8004149 C T rs8004149 9.63E-05 Adverse response to chemotherapy (neutropenia/leucopenia) (all antimicrotubule drugs) HPOID:0001875|HPOID:0001882 DOID:1227 C intron GWASdb_trait 14 92536959 rs12588287 T C rs12588287 9.00E-06 Coronary artery calcification HPOID:0001677 DOID:3393 T intron GWASdb_trait 14 92548785 rs1048755 C T rs1048755 7.45E-05 Adverse response to chemotherapy (neutropenia/leucopenia) (all antimicrotubule drugs) HPOID:0001875|HPOID:0001882 DOID:1227 G missense GWASdb_trait 14 92556055 rs17807815 T C rs17807815 3.48E-04 Alcohol dependence HPOID:0000707 DOID:0050741 T intron GWASdb_trait 14 92556055 rs17807815 T C rs17807815 6.00E-06 Orofacial clefts HPOID:0000202 DOID:0050567 T intron GWASdb_trait 14 92559862 rs1997919 C T rs1997919 7.38E-05 Adverse response to chemotherapy (neutropenia/leucopenia) (all antimicrotubule drugs) HPOID:0001875|HPOID:0001882 DOID:1227 C intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000066427.21 ATXN3 607047