Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 102927 single nucleotide variant NM_015662.2(IFT172):c.5179T>C (p.Cys1727Arg) 149614625 MedGen:C3810175,OMIM:615630 2 27667370 27667370 A G 102927 single nucleotide variant NM_015662.2(IFT172):c.5179T>C (p.Cys1727Arg) 149614625 MedGen:C3810175,OMIM:615630 2 27444503 27444503 A G 102928 deletion NM_015662.2(IFT172):c.4925_4928delGAGA (p.Arg1642Lysfs) 587777078 MedGen:C4017084 2 27668303 27668306 TCTC - 102928 deletion NM_015662.2(IFT172):c.4925_4928delGAGA (p.Arg1642Lysfs) 587777078 MedGen:C4017084 2 27445436 27445439 TCTC - 102929 single nucleotide variant NM_015662.2(IFT172):c.4630C>T (p.Arg1544Cys) 587777079 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399;MedGen:C3810175,OMIM:615630 2 27670411 27670411 G A 102929 single nucleotide variant NM_015662.2(IFT172):c.4630C>T (p.Arg1544Cys) 587777079 MedGen:C0431399,Orphanet:ORPHA475,SNOMED CT:C0431399;MedGen:C3810175,OMIM:615630 2 27447544 27447544 G A 102930 single nucleotide variant NM_015662.2(IFT172):c.4607T>C (p.Leu1536Pro) 587777080 MedGen:C4017084 2 27670434 27670434 A G 102930 single nucleotide variant NM_015662.2(IFT172):c.4607T>C (p.Leu1536Pro) 587777080 MedGen:C4017084 2 27447567 27447567 A G 102931 single nucleotide variant NM_015662.2(IFT172):c.2716C>T (p.Gln906Ter) 587777081 MedGen:C4017084 2 27682316 27682316 G A 102931 single nucleotide variant NM_015662.2(IFT172):c.2716C>T (p.Gln906Ter) 587777081 MedGen:C4017084 2 27459449 27459449 G A 102932 single nucleotide variant NM_015662.2(IFT172):c.3228+1G>A 587777082 MedGen:C4017084 2 27680505 27680505 C T 102932 single nucleotide variant NM_015662.2(IFT172):c.3228+1G>A 587777082 MedGen:C4017084 2 27457638 27457638 C T 102933 single nucleotide variant NM_015662.2(IFT172):c.886C>T (p.Arg296Trp) 145541911 MedGen:C4017084 2 27702916 27702916 G A 102933 single nucleotide variant NM_015662.2(IFT172):c.886C>T (p.Arg296Trp) 145541911 MedGen:C4017084 2 27480049 27480049 G A 102934 duplication NM_015662.2(IFT172):c.1671_1672dupAG (p.Val558Glufs) 587777083 MedGen:C4017085 2 27693815 27693816 CT CTCT 102934 duplication NM_015662.2(IFT172):c.1671_1672dupAG (p.Val558Glufs) 587777083 MedGen:C4017085 2 27470948 27470949 CT CTCT 102935 deletion NM_015662.2(IFT172):c.1390_1395delGATATT (p.Asp464_Ile465del) 587777084 MedGen:C4017084 2 27699524 27699529 AATATC - 102935 deletion NM_015662.2(IFT172):c.1390_1395delGATATT (p.Asp464_Ile465del) 587777084 MedGen:C4017084 2 27476657 27476662 AATATC - 102936 single nucleotide variant NM_015662.2(IFT172):c.1232T>A (p.Ile411Asn) 587777085 MedGen:C3810175,OMIM:615630 2 27700177 27700177 A T 102936 single nucleotide variant NM_015662.2(IFT172):c.1232T>A (p.Ile411Asn) 587777085 MedGen:C3810175,OMIM:615630 2 27477310 27477310 A T 102937 deletion NM_015662.2(IFT172):c.2158delC (p.Arg720Valfs) 587777086 MedGen:C4017084 2 27684661 27684661 G - 102937 deletion NM_015662.2(IFT172):c.2158delC (p.Arg720Valfs) 587777086 MedGen:C4017084 2 27461794 27461794 G - 102938 single nucleotide variant NM_015662.2(IFT172):c.3907C>T (p.Arg1303Ter) 587777087 MedGen:C4017085 2 27676295 27676295 G A 102938 single nucleotide variant NM_015662.2(IFT172):c.3907C>T (p.Arg1303Ter) 587777087 MedGen:C4017085 2 27453428 27453428 G A 189171 single nucleotide variant NM_015662.2(IFT172):c.4701C>A (p.His1567Gln) 786205855 MedGen:CN230762,OMIM:616394 2 27446314 27446314 G T 189171 single nucleotide variant NM_015662.2(IFT172):c.4701C>A (p.His1567Gln) 786205855 MedGen:CN230762,OMIM:616394 2 27669181 27669181 G T 189172 single nucleotide variant NM_015662.2(IFT172):c.1525-1G>A 370540673 MedGen:CN230762,OMIM:616394 2 27693963 27693963 C T 189172 single nucleotide variant NM_015662.2(IFT172):c.1525-1G>A 370540673 MedGen:CN230762,OMIM:616394 2 27471096 27471096 C T 189173 single nucleotide variant NM_015662.2(IFT172):c.4815T>G (p.Asp1605Glu) 786205856 MedGen:CN230762,OMIM:616394 2 27445929 27445929 A C 189173 single nucleotide variant NM_015662.2(IFT172):c.4815T>G (p.Asp1605Glu) 786205856 MedGen:CN230762,OMIM:616394 2 27668796 27668796 A C 189174 single nucleotide variant NM_015662.2(IFT172):c.770T>C (p.Leu257Pro) 786205857 MedGen:CN230762,OMIM:616394 2 27481061 27481061 A G 189174 single nucleotide variant NM_015662.2(IFT172):c.770T>C (p.Leu257Pro) 786205857 MedGen:CN230762,OMIM:616394 2 27703928 27703928 A G 189175 single nucleotide variant NM_015662.2(IFT172):c.3112-5T>A 786205858 MedGen:CN230762,OMIM:616394 2 27457760 27457760 A T 189175 single nucleotide variant NM_015662.2(IFT172):c.3112-5T>A 786205858 MedGen:CN230762,OMIM:616394 2 27680627 27680627 A T 205136 single nucleotide variant NM_015662.2(IFT172):c.112C>T (p.Arg38Ter) 139021548 MedGen:C3810175,OMIM:615630 2 27485431 27485431 G A 205136 single nucleotide variant NM_015662.2(IFT172):c.112C>T (p.Arg38Ter) 139021548 MedGen:C3810175,OMIM:615630 2 27708298 27708298 G A 223608 deletion NM_015662.2(IFT172):c.5133delC (p.Trp1712Glyfs) 869025254 MedGen:CN235161 2 27667908 27667908 G - 223608 deletion NM_015662.2(IFT172):c.5133delC (p.Trp1712Glyfs) 869025254 MedGen:CN235161 2 27445041 27445041 G - 223609 single nucleotide variant NM_015662.2(IFT172):c.3880C>T (p.Arg1294Cys) 369191459 MedGen:CN235161 2 27676322 27676322 G A 223609 single nucleotide variant NM_015662.2(IFT172):c.3880C>T (p.Arg1294Cys) 369191459 MedGen:CN235161 2 27453455 27453455 G A 246920 single nucleotide variant NM_015662.2(IFT172):c.3401G>T (p.Arg1134Leu) 148624326 MedGen:CN169374 2 27677498 27677498 C A 246920 single nucleotide variant NM_015662.2(IFT172):c.3401G>T (p.Arg1134Leu) 148624326 MedGen:CN169374 2 27454631 27454631 C A 359473 single nucleotide variant NM_015662.2(IFT172):c.831G>C (p.Glu277Asp) 150938554 MedGen:CN169374 2 27480104 27480104 C G 359473 single nucleotide variant NM_015662.2(IFT172):c.831G>C (p.Glu277Asp) 150938554 MedGen:CN169374 2 27702971 27702971 C G

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 2 27667297 rs11541994 A AA,AG rs4803 9.40E-06 PRAVASTATIN|CHOLESTEROL|ATORVASTATIN|SIMVASTATIN PYRROLES|LIPIDS|HYDROXYMETHYLGLUTARYL-COA REDUCTASE INHIBITORS|HEPTANOIC ACIDS Response to statin therapy HPOID:0001677 DOID:3393|DOID:423|DOID:1936 G UTR-3 GWASdb_drug 2 27667297 rs11541994 A AA,AG rs4803 2.90E-08 URIC ACID NA Urate levels HPOID:0000079 DOID:13189 G UTR-3 GWASdb_drug 2 27667297 rs11541994 A AA,AG rs4803 2.03E-15 URIC ACID GLUCOSE|INHIBINS Urate levels HPOID:0000079 DOID:13189 G UTR-3 GWASdb_drug 2 27667297 rs4803 A G rs4803 9.40E-06 PRAVASTATIN|CHOLESTEROL|ATORVASTATIN|SIMVASTATIN PYRROLES|LIPIDS|HYDROXYMETHYLGLUTARYL-COA REDUCTASE INHIBITORS|HEPTANOIC ACIDS Response to statin therapy HPOID:0001677 DOID:3393|DOID:423|DOID:1936 G UTR-3 GWASdb_drug 2 27667297 rs4803 A G rs4803 2.90E-08 URIC ACID NA Urate levels HPOID:0000079 DOID:13189 G UTR-3 GWASdb_drug 2 27667297 rs4803 A G rs4803 2.03E-15 URIC ACID GLUCOSE|INHIBINS Urate levels HPOID:0000079 DOID:13189 G UTR-3 GWASdb_drug 2 27677691 rs780104 G A rs780104 1.20E-05 PRAVASTATIN|CHOLESTEROL|ATORVASTATIN|SIMVASTATIN PYRROLES|LIPIDS|HYDROXYMETHYLGLUTARYL-COA REDUCTASE INHIBITORS|HEPTANOIC ACIDS Response to statin therapy HPOID:0001677 DOID:3393|DOID:423|DOID:1936 A intron GWASdb_drug 2 27677691 rs780104 G A rs780104 2.90E-08 URIC ACID NA Urate levels HPOID:0000079 DOID:13189 A intron GWASdb_drug 2 27677691 rs780104 G A rs780104 2.24E-15 URIC ACID GLUCOSE|INHIBINS Urate levels HPOID:0000079 DOID:13189 A intron GWASdb_drug 2 27681598 rs780106 A C rs780106 8.50E-06 PRAVASTATIN|CHOLESTEROL|ATORVASTATIN|SIMVASTATIN PYRROLES|LIPIDS|HYDROXYMETHYLGLUTARYL-COA REDUCTASE INHIBITORS|HEPTANOIC ACIDS Response to statin therapy HPOID:0001677 DOID:3393|DOID:423|DOID:1936 C intron GWASdb_drug 2 27681598 rs780106 A C rs780106 3.10E-08 URIC ACID NA Urate levels HPOID:0000079 DOID:13189 C intron GWASdb_drug 2 27681598 rs780106 A C rs780106 1.17E-15 URIC ACID GLUCOSE|INHIBINS Urate levels HPOID:0000079 DOID:13189 C intron GWASdb_drug 2 27684734 rs780107 A G rs780107 9.20E-06 PRAVASTATIN|CHOLESTEROL|ATORVASTATIN|SIMVASTATIN PYRROLES|LIPIDS|HYDROXYMETHYLGLUTARYL-COA REDUCTASE INHIBITORS|HEPTANOIC ACIDS Response to statin therapy HPOID:0001677 DOID:3393|DOID:423|DOID:1936 G intron GWASdb_drug 2 27684734 rs780107 A G rs780107 2.90E-08 URIC ACID NA Urate levels HPOID:0000079 DOID:13189 G intron GWASdb_drug 2 27684734 rs780107 A G rs780107 1.25E-15 URIC ACID GLUCOSE|INHIBINS Urate levels HPOID:0000079 DOID:13189 G intron GWASdb_drug 2 27685388 rs780110 G A rs780110 4.30E-08 PRAVASTATIN|CHOLESTEROL|ATORVASTATIN|SIMVASTATIN PYRROLES|LIPIDS|HYDROXYMETHYLGLUTARYL-COA REDUCTASE INHIBITORS|HEPTANOIC ACIDS Response to statin therapy HPOID:0001677 DOID:3393|DOID:423|DOID:1936 A intron GWASdb_drug 2 27685388 rs780110 G A rs780110 3.80E-11 URIC ACID NA Urate levels HPOID:0000079 DOID:13189 A intron GWASdb_drug 2 27685388 rs780110 G A rs780110 9.11E-20 URIC ACID GLUCOSE|INHIBINS Urate levels HPOID:0000079 DOID:13189 A intron GWASdb_drug 2 27688601 rs1647276 C T rs1647276 8.70E-06 PRAVASTATIN|CHOLESTEROL|ATORVASTATIN|SIMVASTATIN PYRROLES|LIPIDS|HYDROXYMETHYLGLUTARYL-COA REDUCTASE INHIBITORS|HEPTANOIC ACIDS Response to statin therapy HPOID:0001677 DOID:3393|DOID:423|DOID:1936 C intron GWASdb_drug 2 27688601 rs1647276 C T rs1647276 2.70E-08 URIC ACID NA Urate levels HPOID:0000079 DOID:13189 C intron GWASdb_drug 2 27688601 rs1647276 C T rs1647276 1.39E-15 URIC ACID GLUCOSE|INHIBINS Urate levels HPOID:0000079 DOID:13189 C intron GWASdb_drug 2 27693485 rs1647266 T C rs1647266 6.30E-06 PRAVASTATIN|CHOLESTEROL|ATORVASTATIN|SIMVASTATIN PYRROLES|LIPIDS|HYDROXYMETHYLGLUTARYL-COA REDUCTASE INHIBITORS|HEPTANOIC ACIDS Response to statin therapy HPOID:0001677 DOID:3393|DOID:423|DOID:1936 C intron GWASdb_drug 2 27693485 rs1647266 T C rs1647266 2.80E-08 URIC ACID NA Urate levels HPOID:0000079 DOID:13189 C intron GWASdb_drug 2 27693485 rs1647266 T C rs1647266 1.42E-15 URIC ACID GLUCOSE|INHIBINS Urate levels HPOID:0000079 DOID:13189 C intron GWASdb_drug 2 27698343 rs780117 C G rs780117 8.50E-06 PRAVASTATIN|CHOLESTEROL|ATORVASTATIN|SIMVASTATIN PYRROLES|LIPIDS|HYDROXYMETHYLGLUTARYL-COA REDUCTASE INHIBITORS|HEPTANOIC ACIDS Response to statin therapy HPOID:0001677 DOID:3393|DOID:423|DOID:1936 G intron GWASdb_drug 2 27698343 rs780117 C G rs780117 2.60E-08 URIC ACID NA Urate levels HPOID:0000079 DOID:13189 G intron GWASdb_drug 2 27698343 rs780117 C G rs780117 1.16E-15 URIC ACID GLUCOSE|INHIBINS Urate levels HPOID:0000079 DOID:13189 G intron GWASdb_drug 2 27703495 rs1260345 A G rs1260345 3.10E-05 PRAVASTATIN|CHOLESTEROL|ATORVASTATIN|SIMVASTATIN PYRROLES|LIPIDS|HYDROXYMETHYLGLUTARYL-COA REDUCTASE INHIBITORS|HEPTANOIC ACIDS Response to statin therapy HPOID:0001677 DOID:3393|DOID:423|DOID:1936 C intron GWASdb_drug 2 27703495 rs1260345 A G rs1260345 7.03E-13 URIC ACID GLUCOSE|INHIBINS Urate levels HPOID:0000079 DOID:13189 C intron GWASdb_drug 2 27706640 rs2272417 T C rs2272417 4.50E-05 PRAVASTATIN|CHOLESTEROL|ATORVASTATIN|SIMVASTATIN PYRROLES|LIPIDS|HYDROXYMETHYLGLUTARYL-COA REDUCTASE INHIBITORS|HEPTANOIC ACIDS Response to statin therapy HPOID:0001677 DOID:3393|DOID:423|DOID:1936 T intron GWASdb_drug 2 27706640 rs2272417 T C rs2272417 3.39E-13 URIC ACID GLUCOSE|INHIBINS Urate levels HPOID:0000079 DOID:13189 T intron GWASdb_drug 2 27667297 rs11541994 A AA,AG rs4803 9.40E-06 Response to statin therapy HPOID:0001677 DOID:3393|DOID:423|DOID:1936 G UTR-3 GWASdb_trait 2 27667297 rs11541994 A AA,AG rs4803 2.90E-08 Urate levels HPOID:0000079 DOID:13189 G UTR-3 GWASdb_trait 2 27667297 rs11541994 A AA,AG rs4803 2.03E-15 Urate levels HPOID:0000079 DOID:13189 G UTR-3 GWASdb_trait 2 27667297 rs4803 A G rs4803 9.40E-06 Response to statin therapy HPOID:0001677 DOID:3393|DOID:423|DOID:1936 G UTR-3 GWASdb_trait 2 27667297 rs4803 A G rs4803 2.90E-08 Urate levels HPOID:0000079 DOID:13189 G UTR-3 GWASdb_trait 2 27667297 rs4803 A G rs4803 2.03E-15 Urate levels HPOID:0000079 DOID:13189 G UTR-3 GWASdb_trait 2 27677691 rs780104 G A rs780104 1.20E-05 Response to statin therapy HPOID:0001677 DOID:3393|DOID:423|DOID:1936 A intron GWASdb_trait 2 27677691 rs780104 G A rs780104 2.90E-08 Urate levels HPOID:0000079 DOID:13189 A intron GWASdb_trait 2 27677691 rs780104 G A rs780104 2.24E-15 Urate levels HPOID:0000079 DOID:13189 A intron GWASdb_trait 2 27677778 rs6734392 C T rs6734392 2.83E-05 Intracerebral hemorrhage HPOID:0001342 DOID:6713 C intron GWASdb_trait 2 27681598 rs780106 A C rs780106 8.50E-06 Response to statin therapy HPOID:0001677 DOID:3393|DOID:423|DOID:1936 C intron GWASdb_trait 2 27681598 rs780106 A C rs780106 3.10E-08 Urate levels HPOID:0000079 DOID:13189 C intron GWASdb_trait 2 27681598 rs780106 A C rs780106 1.17E-15 Urate levels HPOID:0000079 DOID:13189 C intron GWASdb_trait 2 27684734 rs780107 A G rs780107 9.20E-06 Response to statin therapy HPOID:0001677 DOID:3393|DOID:423|DOID:1936 G intron GWASdb_trait 2 27684734 rs780107 A G rs780107 2.90E-08 Urate levels HPOID:0000079 DOID:13189 G intron GWASdb_trait 2 27684734 rs780107 A G rs780107 1.25E-15 Urate levels HPOID:0000079 DOID:13189 G intron GWASdb_trait 2 27685388 rs780110 G A rs780110 4.30E-08 Response to statin therapy HPOID:0001677 DOID:3393|DOID:423|DOID:1936 A intron GWASdb_trait 2 27685388 rs780110 G A rs780110 3.80E-11 Urate levels HPOID:0000079 DOID:13189 A intron GWASdb_trait 2 27685388 rs780110 G A rs780110 0.00000172 Body mass index HPOID:0001507 DOID:9970 A intron GWASdb_trait 2 27685388 rs780110 G A rs780110 3.82E-20 Fasting blood glucose HPOID:0005978 DOID:9352 A intron GWASdb_trait 2 27685388 rs780110 G A rs780110 9.11E-20 Urate levels HPOID:0000079 DOID:13189 A intron GWASdb_trait 2 27688601 rs1647276 C T rs1647276 8.70E-06 Response to statin therapy HPOID:0001677 DOID:3393|DOID:423|DOID:1936 C intron GWASdb_trait 2 27688601 rs1647276 C T rs1647276 2.70E-08 Urate levels HPOID:0000079 DOID:13189 C intron GWASdb_trait 2 27688601 rs1647276 C T rs1647276 1.39E-15 Urate levels HPOID:0000079 DOID:13189 C intron GWASdb_trait 2 27693485 rs1647266 T C rs1647266 6.30E-06 Response to statin therapy HPOID:0001677 DOID:3393|DOID:423|DOID:1936 C intron GWASdb_trait 2 27693485 rs1647266 T C rs1647266 2.80E-08 Urate levels HPOID:0000079 DOID:13189 C intron GWASdb_trait 2 27693485 rs1647266 T C rs1647266 1.42E-15 Urate levels HPOID:0000079 DOID:13189 C intron GWASdb_trait 2 27698343 rs780117 C G rs780117 8.50E-06 Response to statin therapy HPOID:0001677 DOID:3393|DOID:423|DOID:1936 G intron GWASdb_trait 2 27698343 rs780117 C G rs780117 2.60E-08 Urate levels HPOID:0000079 DOID:13189 G intron GWASdb_trait 2 27698343 rs780117 C G rs780117 1.16E-15 Urate levels HPOID:0000079 DOID:13189 G intron GWASdb_trait 2 27699789 rs56047188 C T rs56047188 4.56E-05 Intracerebral hemorrhage HPOID:0001342 DOID:6713 C intron GWASdb_trait 2 27703495 rs1260345 A G rs1260345 3.10E-05 Response to statin therapy HPOID:0001677 DOID:3393|DOID:423|DOID:1936 C intron GWASdb_trait 2 27703495 rs1260345 A G rs1260345 7.03E-13 Urate levels HPOID:0000079 DOID:13189 C intron GWASdb_trait 2 27706640 rs2272417 T C rs2272417 4.50E-05 Response to statin therapy HPOID:0001677 DOID:3393|DOID:423|DOID:1936 T intron GWASdb_trait 2 27706640 rs2272417 T C rs2272417 7.05E-06 Schizophrenia HPOID:0100753 DOID:5419 T intron GWASdb_trait 2 27706640 rs2272417 T C rs2272417 3.39E-13 Urate levels HPOID:0000079 DOID:13189 T intron GWASdb_trait 2 27711157 rs58979173 A C rs58979173 4.88E-05 Intracerebral hemorrhage HPOID:0001342 DOID:6713 A intron GWASdb_trait 2 27712408 rs7583698 C T rs7583698 4.72E-05 Intracerebral hemorrhage HPOID:0001342 DOID:6713 C intron GWASdb_trait

Disease associated variation - GWAS Central Study Name Source Marker Accession Chromosome Marker Start Marker Stop Alleles Gene Section P-value -log(p-value) GWAS of prostate cancer rs1260345 2 27703495 27703495 intronic 0.965228 0.0153700882664478 GWAS of prostate cancer rs2272417 2 27706640 27706640 intronic 0.948988 0.0227392792131001 GWAS of prostate cancer rs4803 2 27667297 27667297 UTR3 0.736904 0.132589086070216 GWAS of prostate cancer rs780106 2 27681598 27681598 intronic 0.704624 0.152042568520579 GWAS of prostate cancer rs1647276 2 27688601 27688601 intronic 0.704624 0.152042568520579 GWAS of prostate cancer rs1647266 2 27693485 27693485 intronic 0.704447 0.152151676044191 GWAS of prostate cancer rs780104 2 27677691 27677691 intronic 0.701649 0.15388008941605902

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000138002.14 IFT172 607386