Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 247491 single nucleotide variant NM_007118.3(TRIO):c.4128G>A (p.Trp1376Ter) 879255622 MedGen:CN237804,OMIM:617061 5 14390409 14390409 G A 247491 single nucleotide variant NM_007118.3(TRIO):c.4128G>A (p.Trp1376Ter) 879255622 MedGen:CN237804,OMIM:617061 5 14390300 14390300 G A 247492 deletion NM_007118.3(TRIO):c.3752delA (p.Asp1251Valfs) 879255623 MedGen:CN237804,OMIM:617061 5 14387619 14387619 A - 247492 deletion NM_007118.3(TRIO):c.3752delA (p.Asp1251Valfs) 879255623 MedGen:CN237804,OMIM:617061 5 14387728 14387728 A - 247493 single nucleotide variant NM_007118.3(TRIO):c.649A>T (p.Arg217Ter) 879255624 MedGen:CN237804,OMIM:617061 5 14290824 14290824 A T 247493 single nucleotide variant NM_007118.3(TRIO):c.649A>T (p.Arg217Ter) 879255624 MedGen:CN237804,OMIM:617061 5 14290933 14290933 A T 247494 deletion NM_007118.3(TRIO):c.4466delA (p.Gln1489Argfs) 879255625 MedGen:CN237804,OMIM:617061 5 14398922 14398922 A - 247494 deletion NM_007118.3(TRIO):c.4466delA (p.Gln1489Argfs) 879255625 MedGen:CN237804,OMIM:617061 5 14399031 14399031 A - 247495 single nucleotide variant NM_007118.3(TRIO):c.4283G>A (p.Arg1428Gln) 879255626 MedGen:CN237804,OMIM:617061 5 14394211 14394211 G A 247495 single nucleotide variant NM_007118.3(TRIO):c.4283G>A (p.Arg1428Gln) 879255626 MedGen:CN237804,OMIM:617061 5 14394102 14394102 G A 247496 single nucleotide variant NM_007118.3(TRIO):c.4381C>A (p.Pro1461Thr) 879255627 MedGen:CN237804,OMIM:617061 5 14397221 14397221 C A 247496 single nucleotide variant NM_007118.3(TRIO):c.4381C>A (p.Pro1461Thr) 879255627 MedGen:CN237804,OMIM:617061 5 14397112 14397112 C A 247497 single nucleotide variant NM_007118.3(TRIO):c.3239A>T (p.Asn1080Ile) 879255628 MedGen:CN237804,OMIM:617061 5 14374360 14374360 A T 247497 single nucleotide variant NM_007118.3(TRIO):c.3239A>T (p.Asn1080Ile) 879255628 MedGen:CN237804,OMIM:617061 5 14374251 14374251 A T 353885 single nucleotide variant NM_007118.3(TRIO):c.634G>T (p.Glu212Ter) 1057516029 MedGen:CN237804,OMIM:617061 5 14290918 14290918 G T 353885 single nucleotide variant NM_007118.3(TRIO):c.634G>T (p.Glu212Ter) 1057516029 MedGen:CN237804,OMIM:617061 5 14290809 14290809 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 5 14393621 rs10065203 C T rs10065203 4.00E-06 PACLITAXEL ANTINEOPLASTIC AGENTS|RECEPTORS, EPH FAMILY Paclitaxel-induced neuropathy HPOID:0000763 DOID:2491 C intron GWASdb_drug 5 14485386 rs26098 T C rs26098 1.98E-04 ALDOSTERONE BIOLOGICAL MARKERS|NATRIURETIC PEPTIDE, BRAIN|RENIN Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption) HPOID:0011025 DOID:10763 A intron GWASdb_drug 5 14495485 rs27480 T C rs27480 5.25E-04 ALDOSTERONE BIOLOGICAL MARKERS|NATRIURETIC PEPTIDE, BRAIN|RENIN Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption) HPOID:0011025 DOID:10763 T intron GWASdb_drug 5 14495485 rs27480 T C rs27480 8.49E-04 GEMCITABINE|CYTARABINE MANNOSYLTRANSFERASES|PIGB PROTEIN, HUMAN|RNA, SMALL INTERFERING|DEOXYCYTIDINE Response to cytidine analogues (gemcitabine) HPOID:0002664 DOID:162 T intron GWASdb_drug 5 14499395 rs27479 C A rs27479 8.17E-04 GEMCITABINE|CYTARABINE MANNOSYLTRANSFERASES|PIGB PROTEIN, HUMAN|RNA, SMALL INTERFERING|DEOXYCYTIDINE Response to cytidine analogues (gemcitabine) HPOID:0002664 DOID:162 C intron GWASdb_drug 5 14507905 rs26086 A G rs26086 7.22E-04 GEMCITABINE|CYTARABINE MANNOSYLTRANSFERASES|PIGB PROTEIN, HUMAN|RNA, SMALL INTERFERING|DEOXYCYTIDINE Response to cytidine analogues (gemcitabine) HPOID:0002664 DOID:162 A intron GWASdb_drug 5 14157040 rs250848 G A rs250848 7.85E-04 Alzheimer's disease HPOID:0002511 DOID:10652 A intron GWASdb_trait 5 14157376 rs17298767 C T rs17298767 4.00E-06 Urinary metabolites HPOID:0000079 DOID:557 C intron GWASdb_trait 5 14160447 rs7724830 C G rs7724830 3.20E-06 Urinary metabolites HPOID:0000079 DOID:557 C intron GWASdb_trait 5 14166402 rs26286 T G rs26286 5.38E-05 Parkinson's disease HPOID:0001300 DOID:14330 G intron GWASdb_trait 5 14168094 rs16903250 C T rs16903250 3.87E-04 Multiple complex diseases HPOID:0000118 NA C intron GWASdb_trait 5 14174106 rs32571 T C rs32571 1.23E-04 Type 2 diabetes HPOID:0005978 DOID:9352 C intron GWASdb_trait 5 14206537 rs33005 G T rs33005 4.69E-04 Type 2 diabetes HPOID:0005978 DOID:9352 C intron GWASdb_trait 5 14238242 rs11747251 T A,G rs11743665 5.00E-05 Parkinson's disease (age of onset) HPOID:0001300 DOID:14330 C intron GWASdb_trait 5 14238242 rs370265972 TC TAT,TTC rs11743665 5.00E-05 Parkinson's disease (age of onset) HPOID:0001300 DOID:14330 C intron GWASdb_trait 5 14244357 rs4702023 A G rs4702023 7.16E-04 Multiple complex diseases HPOID:0000118 NA A intron GWASdb_trait 5 14253187 rs16903338 A G rs16903338 1.68E-05 Attention deficit hyperactivity disorder HPOID:0007018 DOID:1094 A intron GWASdb_trait 5 14291614 rs773765 T C rs773765 3.21E-07 Elbow pain HPOID:0001627 DOID:114 T intron GWASdb_trait 5 14301803 rs42204 A G rs42204 3.08E-05 Attention deficit hyperactivity disorder HPOID:0007018 DOID:1094 G intron GWASdb_trait 5 14302488 rs16903375 T C rs16903375 2.53E-06 Elbow pain HPOID:0001627 DOID:114 T intron GWASdb_trait 5 14312410 rs42405 T C rs42405 3.30E-05 Attention deficit hyperactivity disorder HPOID:0007018 DOID:1094 C intron GWASdb_trait 5 14332325 rs30623 T C rs30623 7.63E-04 Type 2 diabetes HPOID:0005978 DOID:9352 T intron GWASdb_trait 5 14339527 rs17304347 A T rs17304347 8.54E-04 Type 2 diabetes HPOID:0005978 DOID:9352 A intron GWASdb_trait 5 14367568 rs16903421 T C rs16903421 3.51E-04 Coronary Artery Disease HPOID:0001677 DOID:3393 T intron GWASdb_trait 5 14379820 rs10513174 A G rs10513174 2.39E-04 Type 2 diabetes HPOID:0005978 DOID:9352 A intron GWASdb_trait 5 14384453 rs30791 A C rs30791 4.80E-05 Orofacial clefts HPOID:0000202 DOID:0050567 G intron GWASdb_trait 5 14386655 rs42259 T C rs42259 6.76E-06 Attention deficit hyperactivity disorder HPOID:0007018 DOID:1094 C intron GWASdb_trait 5 14393621 rs10065203 C T rs10065203 4.00E-06 Paclitaxel-induced neuropathy HPOID:0000763 DOID:2491 C intron GWASdb_trait 5 14397238 rs30774 T C rs30774 2.77E-05 Orofacial clefts HPOID:0000202 DOID:0050567 G cds-synon GWASdb_trait 5 14400123 rs28343 G A rs28343 3.28E-05 Orofacial clefts HPOID:0000202 DOID:0050567 A intron GWASdb_trait 5 14400955 rs42206 T C rs42206 1.63E-05 Orofacial clefts HPOID:0000202 DOID:0050567 G intron GWASdb_trait 5 14415590 rs6883134 A G rs6883134 4.97E-04 Coronary Artery Disease HPOID:0001677 DOID:3393 A intron GWASdb_trait 5 14419552 rs6887662 A T rs6887662 1.49E-05 Multiple complex diseases HPOID:0000118 NA A intron GWASdb_trait 5 14483164 rs7706559 G A rs7706559 5.17E-05 Serum metabolites HPOID:0011111 NA G intron GWASdb_trait 5 14485386 rs26098 T C rs26098 1.98E-04 Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption) HPOID:0011025 DOID:10763 A intron GWASdb_trait 5 14486307 rs117297784 A G rs117297784 1.13E-07 Coronary heart disease HPOID:0001677 DOID:3393 A intron GWASdb_trait 5 14495485 rs27480 T C rs27480 5.25E-04 Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption) HPOID:0011025 DOID:10763 T intron GWASdb_trait 5 14495485 rs27480 T C rs27480 8.49E-04 Response to cytidine analogues (gemcitabine) HPOID:0002664 DOID:162 T intron GWASdb_trait 5 14499395 rs27479 C A rs27479 8.17E-04 Response to cytidine analogues (gemcitabine) HPOID:0002664 DOID:162 C intron GWASdb_trait 5 14507905 rs26086 A G rs26086 7.22E-04 Response to cytidine analogues (gemcitabine) HPOID:0002664 DOID:162 A intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000038382.17 TRIO 601893