Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 19674 single nucleotide variant NM_052985.3(IFT122):c.1658T>G (p.Val553Gly) 267607191 MedGen:C0432235,OMIM:218330 3 129200389 129200389 T G 19674 single nucleotide variant NM_052985.3(IFT122):c.1658T>G (p.Val553Gly) 267607191 MedGen:C0432235,OMIM:218330 3 129481546 129481546 T G 19675 single nucleotide variant NM_052985.3(IFT122):c.1118C>T (p.Ser373Phe) 267607192 MedGen:C0432235,OMIM:218330 3 129195306 129195306 C T 19675 single nucleotide variant NM_052985.3(IFT122):c.1118C>T (p.Ser373Phe) 267607192 MedGen:C0432235,OMIM:218330 3 129476463 129476463 C T 19676 single nucleotide variant NM_052985.3(IFT122):c.502+5G>A 376595844 MedGen:C0432235,OMIM:218330 3 129180152 129180152 G A 19676 single nucleotide variant NM_052985.3(IFT122):c.502+5G>A 376595844 MedGen:C0432235,OMIM:218330 3 129461309 129461309 G A 19677 single nucleotide variant NM_052985.3(IFT122):c.21G>C (p.Trp7Cys) 267607193 MedGen:C0432235,OMIM:218330 3 129159194 129159194 G C 19677 single nucleotide variant NM_052985.3(IFT122):c.21G>C (p.Trp7Cys) 267607193 MedGen:C0432235,OMIM:218330 3 129440351 129440351 G C 76648 deletion NM_052985.3(IFT122):c.1108delG (p.Glu370Serfs) 397515567 MedGen:C0432235,OMIM:218330 3 129195296 129195296 G - 76648 deletion NM_052985.3(IFT122):c.1108delG (p.Glu370Serfs) 397515567 MedGen:C0432235,OMIM:218330 3 129476453 129476453 G - 76649 single nucleotide variant NM_052985.3(IFT122):c.1636G>A (p.Gly546Arg) 397515568 MedGen:C0432235,OMIM:218330 3 129198760 129198760 G A 76649 single nucleotide variant NM_052985.3(IFT122):c.1636G>A (p.Gly546Arg) 397515568 MedGen:C0432235,OMIM:218330 3 129479917 129479917 G A 188987 single nucleotide variant NM_052985.3(IFT122):c.1868G>T (p.Gly623Val) 786205566 MedGen:CN221809 3 129202389 129202389 G T 188987 single nucleotide variant NM_052985.3(IFT122):c.1868G>T (p.Gly623Val) 786205566 MedGen:CN221809 3 129483546 129483546 G T 188988 single nucleotide variant NM_052990.2(IFT122):c.2042+2T>C 786205567 MedGen:CN119432,SNOMED CT:CN119432;MedGen:CN221809 3 129218913 129218913 T C 188988 single nucleotide variant NM_052990.2(IFT122):c.2042+2T>C 786205567 MedGen:CN119432,SNOMED CT:CN119432;MedGen:CN221809 3 129500070 129500070 T C 191289 single nucleotide variant NM_052985.3(IFT122):c.1256G>A (p.Ser419Asn) 150550701 MedGen:CN119432,SNOMED CT:CN119432;MedGen:CN169374 3 129195600 129195600 G A 191289 single nucleotide variant NM_052985.3(IFT122):c.1256G>A (p.Ser419Asn) 150550701 MedGen:CN119432,SNOMED CT:CN119432;MedGen:CN169374 3 129476757 129476757 G A 191959 single nucleotide variant NM_052985.3(IFT122):c.2145+7A>G 757823317 MedGen:CN221809 3 129207247 129207247 A G 191959 single nucleotide variant NM_052985.3(IFT122):c.2145+7A>G 757823317 MedGen:CN221809 3 129488404 129488404 A G 192063 single nucleotide variant NM_052985.3(IFT122):c.2146-7G>C 2285354 MedGen:CN119432,SNOMED CT:CN119432;MedGen:CN169374 3 129210977 129210977 G C 192063 single nucleotide variant NM_052985.3(IFT122):c.2146-7G>C 2285354 MedGen:CN119432,SNOMED CT:CN119432;MedGen:CN169374 3 129492134 129492134 G C 192698 single nucleotide variant NM_052985.3(IFT122):c.2398A>T (p.Met800Leu) 794727330 MedGen:CN169374 3 129218781 129218781 A T 192698 single nucleotide variant NM_052985.3(IFT122):c.2398A>T (p.Met800Leu) 794727330 MedGen:CN169374 3 129499938 129499938 A T 192941 single nucleotide variant NM_052985.3(IFT122):c.2902T>G (p.Tyr968Asp) 146818399 MedGen:CN169374 3 129225350 129225350 T G 192941 single nucleotide variant NM_052985.3(IFT122):c.2902T>G (p.Tyr968Asp) 146818399 MedGen:CN169374 3 129506507 129506507 T G 192942 single nucleotide variant NM_052985.3(IFT122):c.2874G>A (p.Ala958=) 371570973 MedGen:CN119432,SNOMED CT:CN119432;MedGen:CN169374 3 129225322 129225322 G A 192942 single nucleotide variant NM_052985.3(IFT122):c.2874G>A (p.Ala958=) 371570973 MedGen:CN119432,SNOMED CT:CN119432;MedGen:CN169374 3 129506479 129506479 G A 192943 single nucleotide variant NM_052985.3(IFT122):c.2873C>T (p.Ala958Val) 377690924 MedGen:CN169374 3 129225321 129225321 C T 192943 single nucleotide variant NM_052985.3(IFT122):c.2873C>T (p.Ala958Val) 377690924 MedGen:CN169374 3 129506478 129506478 C T 193152 single nucleotide variant NM_052985.3(IFT122):c.3282C>T (p.Arg1094=) 76881473 MedGen:CN169374 3 129233373 129233373 C T 193152 single nucleotide variant NM_052985.3(IFT122):c.3282C>T (p.Arg1094=) 76881473 MedGen:CN169374 3 129514530 129514530 C T 193209 single nucleotide variant NM_052985.3(IFT122):c.3397A>G (p.Ile1133Val) 143490747 MedGen:CN169374 3 129234421 129234421 A G 193209 single nucleotide variant NM_052985.3(IFT122):c.3397A>G (p.Ile1133Val) 143490747 MedGen:CN169374 3 129515578 129515578 A G 193795 single nucleotide variant NM_052985.3(IFT122):c.3699C>T (p.Leu1233=) 794727536 MedGen:CN169374 3 129238485 129238485 C T 193795 single nucleotide variant NM_052985.3(IFT122):c.3699C>T (p.Leu1233=) 794727536 MedGen:CN169374 3 129519642 129519642 C T 195026 single nucleotide variant NM_052985.3(IFT122):c.339A>T (p.Arg113Ser) 794727737 MedGen:CN169374 3 129179763 129179763 A T 195026 single nucleotide variant NM_052985.3(IFT122):c.339A>T (p.Arg113Ser) 794727737 MedGen:CN169374 3 129460920 129460920 A T 207042 single nucleotide variant NM_052985.3(IFT122):c.2061T>C (p.Ile687=) 139722192 MedGen:CN169374 3 129207156 129207156 T C 207042 single nucleotide variant NM_052985.3(IFT122):c.2061T>C (p.Ile687=) 139722192 MedGen:CN169374 3 129488313 129488313 T C 207043 single nucleotide variant NM_052985.3(IFT122):c.2146-8C>T 531091599 MedGen:CN119432,SNOMED CT:CN119432;MedGen:CN169374 3 129210976 129210976 C T 207043 single nucleotide variant NM_052985.3(IFT122):c.2146-8C>T 531091599 MedGen:CN119432,SNOMED CT:CN119432;MedGen:CN169374 3 129492133 129492133 C T 207044 single nucleotide variant NM_052985.3(IFT122):c.3585C>T (p.Ile1195=) 149884307 MedGen:CN119432,SNOMED CT:CN119432;MedGen:CN169374 3 129519147 129519147 C T 207044 single nucleotide variant NM_052985.3(IFT122):c.3585C>T (p.Ile1195=) 149884307 MedGen:CN119432,SNOMED CT:CN119432;MedGen:CN169374 3 129237990 129237990 C T 246935 single nucleotide variant NM_052985.3(IFT122):c.2447A>C (p.Lys816Thr) 146026277 MedGen:CN169374 3 129218830 129218830 A C 246935 single nucleotide variant NM_052985.3(IFT122):c.2447A>C (p.Lys816Thr) 146026277 MedGen:CN169374 3 129499987 129499987 A C 250910 deletion NM_052985.3(IFT122):c.273-43delT 886038708 MedGen:CN169374 3 129460811 129460811 T - 250910 deletion NM_052985.3(IFT122):c.273-43delT 886038708 MedGen:CN169374 3 129179654 129179654 T - 250911 single nucleotide variant NM_052985.3(IFT122):c.893+15G>A 56379561 MedGen:CN119432,SNOMED CT:CN119432;MedGen:CN169374 3 129467081 129467081 G A 250911 single nucleotide variant NM_052985.3(IFT122):c.893+15G>A 56379561 MedGen:CN119432,SNOMED CT:CN119432;MedGen:CN169374 3 129185924 129185924 G A 250912 single nucleotide variant NM_052985.3(IFT122):c.978G>T (p.Lys326Asn) 117517364 MedGen:CN119432,SNOMED CT:CN119432;MedGen:CN169374 3 129195166 129195166 G T 250912 single nucleotide variant NM_052985.3(IFT122):c.978G>T (p.Lys326Asn) 117517364 MedGen:CN119432,SNOMED CT:CN119432;MedGen:CN169374 3 129476323 129476323 G T 250913 single nucleotide variant NM_052985.3(IFT122):c.1179C>T (p.Asp393=) 79187669 MedGen:CN119432,SNOMED CT:CN119432;MedGen:CN169374 3 129195523 129195523 C T 250913 single nucleotide variant NM_052985.3(IFT122):c.1179C>T (p.Asp393=) 79187669 MedGen:CN119432,SNOMED CT:CN119432;MedGen:CN169374 3 129476680 129476680 C T 250914 single nucleotide variant NM_052985.3(IFT122):c.1300+19C>T 2301570 MedGen:CN169374 3 129195663 129195663 C T 250914 single nucleotide variant NM_052985.3(IFT122):c.1300+19C>T 2301570 MedGen:CN169374 3 129476820 129476820 C T 250915 single nucleotide variant NM_052985.3(IFT122):c.1807-12C>T 112066509 MedGen:CN119432,SNOMED CT:CN119432;MedGen:CN169374 3 129202316 129202316 C T 250915 single nucleotide variant NM_052985.3(IFT122):c.1807-12C>T 112066509 MedGen:CN119432,SNOMED CT:CN119432;MedGen:CN169374 3 129483473 129483473 C T 250916 single nucleotide variant NM_052985.3(IFT122):c.2199+32A>G 60681706 MedGen:CN169374 3 129211069 129211069 A G 250916 single nucleotide variant NM_052985.3(IFT122):c.2199+32A>G 60681706 MedGen:CN169374 3 129492226 129492226 A G 250917 single nucleotide variant NM_052985.3(IFT122):c.2213G>A (p.Arg738Gln) 61740161 MedGen:CN119432,SNOMED CT:CN119432;MedGen:CN169374 3 129214302 129214302 G A 250917 single nucleotide variant NM_052985.3(IFT122):c.2213G>A (p.Arg738Gln) 61740161 MedGen:CN119432,SNOMED CT:CN119432;MedGen:CN169374 3 129495459 129495459 G A 250918 single nucleotide variant NM_052985.3(IFT122):c.2528+33G>T 6799876 MedGen:CN169374 3 129218944 129218944 G T 250918 single nucleotide variant NM_052985.3(IFT122):c.2528+33G>T 6799876 MedGen:CN169374 3 129500101 129500101 G T 264115 deletion NM_052985.3(IFT122):c.2464_2465delTA (p.Tyr822Hisfs) 886041421 MedGen:CN221809 3 129218847 129218848 TA - 264115 deletion NM_052985.3(IFT122):c.2464_2465delTA (p.Tyr822Hisfs) 886041421 MedGen:CN221809 3 129500004 129500005 TA - 265581 deletion NM_052985.3(IFT122):c.2188delA (p.Ser730Alafs) 886042132 MedGen:CN169374 3 129211026 129211026 A - 265581 deletion NM_052985.3(IFT122):c.2188delA (p.Ser730Alafs) 886042132 MedGen:CN169374 3 129492183 129492183 A - 267224 single nucleotide variant NM_052985.3(IFT122):c.229G>A (p.Val77Ile) 369525803 MedGen:CN169374 3 129177477 129177477 G A 267224 single nucleotide variant NM_052985.3(IFT122):c.229G>A (p.Val77Ile) 369525803 MedGen:CN169374 3 129458634 129458634 G A 267318 single nucleotide variant NM_052985.3(IFT122):c.1131G>A (p.Thr377=) 781409395 MedGen:CN169374 3 129195319 129195319 G A 267318 single nucleotide variant NM_052985.3(IFT122):c.1131G>A (p.Thr377=) 781409395 MedGen:CN169374 3 129476476 129476476 G A 267615 single nucleotide variant NM_052985.3(IFT122):c.770T>C (p.Ile257Thr) 59912693 MedGen:CN169374 3 129185786 129185786 T C 267615 single nucleotide variant NM_052985.3(IFT122):c.770T>C (p.Ile257Thr) 59912693 MedGen:CN169374 3 129466943 129466943 T C 267976 single nucleotide variant NM_052985.3(IFT122):c.3640T>A (p.Phe1214Ile) 200606803 MedGen:CN119432,SNOMED CT:CN119432;MedGen:CN169374 3 129238426 129238426 T A 267976 single nucleotide variant NM_052985.3(IFT122):c.3640T>A (p.Phe1214Ile) 200606803 MedGen:CN119432,SNOMED CT:CN119432;MedGen:CN169374 3 129519583 129519583 T A 272378 single nucleotide variant NM_052985.3(IFT122):c.822C>T (p.Tyr274=) 139008392 MedGen:CN169374 3 129185838 129185838 C T 272378 single nucleotide variant NM_052985.3(IFT122):c.822C>T (p.Tyr274=) 139008392 MedGen:CN169374 3 129466995 129466995 C T 272572 single nucleotide variant NM_052985.3(IFT122):c.1426C>T (p.Arg476Trp) 61744639 MedGen:CN169374 3 129196984 129196984 C T 272572 single nucleotide variant NM_052985.3(IFT122):c.1426C>T (p.Arg476Trp) 61744639 MedGen:CN169374 3 129478141 129478141 C T 275510 single nucleotide variant NM_052985.3(IFT122):c.41+15G>T 36222038 MedGen:CN169374 3 129159229 129159229 G T 275510 single nucleotide variant NM_052985.3(IFT122):c.41+15G>T 36222038 MedGen:CN169374 3 129440386 129440386 G T 288698 single nucleotide variant NM_052985.3(IFT122):c.-210C>A 148987764 MedGen:CN119432,SNOMED CT:CN119432 3 129440121 129440121 C A 288698 single nucleotide variant NM_052985.3(IFT122):c.-210C>A 148987764 MedGen:CN119432,SNOMED CT:CN119432 3 129158964 129158964 C A 288700 single nucleotide variant NM_052985.3(IFT122):c.-3G>A 367704478 MedGen:CN119432,SNOMED CT:CN119432 3 129440328 129440328 G A 288700 single nucleotide variant NM_052985.3(IFT122):c.-3G>A 367704478 MedGen:CN119432,SNOMED CT:CN119432 3 129159171 129159171 G A 288702 single nucleotide variant NM_052985.3(IFT122):c.132C>G (p.Thr44=) 371772807 MedGen:CN119432,SNOMED CT:CN119432 3 129451937 129451937 C G 288702 single nucleotide variant NM_052985.3(IFT122):c.132C>G (p.Thr44=) 371772807 MedGen:CN119432,SNOMED CT:CN119432 3 129170780 129170780 C G 288703 single nucleotide variant NM_052985.3(IFT122):c.1303C>T (p.Arg435Trp) 139079256 MedGen:CN119432,SNOMED CT:CN119432 3 129196861 129196861 C T 288703 single nucleotide variant NM_052985.3(IFT122):c.1303C>T (p.Arg435Trp) 139079256 MedGen:CN119432,SNOMED CT:CN119432 3 129478018 129478018 C T 288704 single nucleotide variant NM_052985.3(IFT122):c.1706G>A (p.Arg569His) 138223055 MedGen:CN119432,SNOMED CT:CN119432 3 129481594 129481594 G A 288704 single nucleotide variant NM_052985.3(IFT122):c.1706G>A (p.Arg569His) 138223055 MedGen:CN119432,SNOMED CT:CN119432 3 129200437 129200437 G A 288708 single nucleotide variant NM_052985.3(IFT122):c.1911C>G (p.His637Gln) 141889207 MedGen:CN119432,SNOMED CT:CN119432 3 129483589 129483589 C G 288708 single nucleotide variant NM_052985.3(IFT122):c.1911C>G (p.His637Gln) 141889207 MedGen:CN119432,SNOMED CT:CN119432 3 129202432 129202432 C G 288710 single nucleotide variant NM_052985.3(IFT122):c.2096A>C (p.Glu699Ala) 144397126 MedGen:CN119432,SNOMED CT:CN119432 3 129488348 129488348 A C 288710 single nucleotide variant NM_052985.3(IFT122):c.2096A>C (p.Glu699Ala) 144397126 MedGen:CN119432,SNOMED CT:CN119432 3 129207191 129207191 A C 288712 single nucleotide variant NM_052985.3(IFT122):c.2208G>T (p.Lys736Asn) 779236550 MedGen:CN119432,SNOMED CT:CN119432 3 129495454 129495454 G T 288712 single nucleotide variant NM_052985.3(IFT122):c.2208G>T (p.Lys736Asn) 779236550 MedGen:CN119432,SNOMED CT:CN119432 3 129214297 129214297 G T 288714 single nucleotide variant NM_052985.3(IFT122):c.2993G>A (p.Arg998His) 760810819 MedGen:CN119432,SNOMED CT:CN119432 3 129507716 129507716 G A 288714 single nucleotide variant NM_052985.3(IFT122):c.2993G>A (p.Arg998His) 760810819 MedGen:CN119432,SNOMED CT:CN119432 3 129226559 129226559 G A 288715 single nucleotide variant NM_052985.3(IFT122):c.3281G>A (p.Arg1094His) 576743578 MedGen:CN119432,SNOMED CT:CN119432 3 129514529 129514529 G A 288715 single nucleotide variant NM_052985.3(IFT122):c.3281G>A (p.Arg1094His) 576743578 MedGen:CN119432,SNOMED CT:CN119432 3 129233372 129233372 G A 288718 single nucleotide variant NM_052985.3(IFT122):c.3284C>T (p.Ala1095Val) 147341636 MedGen:CN119432,SNOMED CT:CN119432 3 129514532 129514532 C T 288718 single nucleotide variant NM_052985.3(IFT122):c.3284C>T (p.Ala1095Val) 147341636 MedGen:CN119432,SNOMED CT:CN119432 3 129233375 129233375 C T 288719 single nucleotide variant NM_052985.3(IFT122):c.3405C>T (p.Ser1135=) 775568842 MedGen:CN119432,SNOMED CT:CN119432 3 129515586 129515586 C T 288719 single nucleotide variant NM_052985.3(IFT122):c.3405C>T (p.Ser1135=) 775568842 MedGen:CN119432,SNOMED CT:CN119432 3 129234429 129234429 C T 288723 single nucleotide variant NM_052985.3(IFT122):c.3686G>A (p.Arg1229His) 149029829 MedGen:CN119432,SNOMED CT:CN119432 3 129519629 129519629 G A 288723 single nucleotide variant NM_052985.3(IFT122):c.3686G>A (p.Arg1229His) 149029829 MedGen:CN119432,SNOMED CT:CN119432 3 129238472 129238472 G A 289412 single nucleotide variant NM_052985.3(IFT122):c.109-15T>C 114298924 MedGen:CN119432,SNOMED CT:CN119432 3 129451899 129451899 T C 289412 single nucleotide variant NM_052985.3(IFT122):c.109-15T>C 114298924 MedGen:CN119432,SNOMED CT:CN119432 3 129170742 129170742 T C 289423 single nucleotide variant NM_052985.3(IFT122):c.214T>G (p.Ser72Ala) 144140226 MedGen:CN119432,SNOMED CT:CN119432 3 129458619 129458619 T G 289423 single nucleotide variant NM_052985.3(IFT122):c.214T>G (p.Ser72Ala) 144140226 MedGen:CN119432,SNOMED CT:CN119432 3 129177462 129177462 T G 289426 single nucleotide variant NM_052985.3(IFT122):c.474A>G (p.Gln158=) 138793724 MedGen:CN119432,SNOMED CT:CN119432 3 129461276 129461276 A G 289426 single nucleotide variant NM_052985.3(IFT122):c.474A>G (p.Gln158=) 138793724 MedGen:CN119432,SNOMED CT:CN119432 3 129180119 129180119 A G 289429 single nucleotide variant NM_052985.3(IFT122):c.1162-14C>T 202155515 MedGen:CN119432,SNOMED CT:CN119432 3 129195492 129195492 C T 289429 single nucleotide variant NM_052985.3(IFT122):c.1162-14C>T 202155515 MedGen:CN119432,SNOMED CT:CN119432 3 129476649 129476649 C T 289437 single nucleotide variant NM_052985.3(IFT122):c.1447A>G (p.Lys483Glu) 781181264 MedGen:CN119432,SNOMED CT:CN119432 3 129478162 129478162 A G 289437 single nucleotide variant NM_052985.3(IFT122):c.1447A>G (p.Lys483Glu) 781181264 MedGen:CN119432,SNOMED CT:CN119432 3 129197005 129197005 A G 289446 single nucleotide variant NM_052985.3(IFT122):c.1686G>A (p.Leu562=) 183614690 MedGen:CN119432,SNOMED CT:CN119432 3 129481574 129481574 G A 289446 single nucleotide variant NM_052985.3(IFT122):c.1686G>A (p.Leu562=) 183614690 MedGen:CN119432,SNOMED CT:CN119432 3 129200417 129200417 G A 289447 single nucleotide variant NM_052985.3(IFT122):c.1953C>T (p.Ser651=) 886057965 MedGen:CN119432,SNOMED CT:CN119432 3 129483631 129483631 C T 289447 single nucleotide variant NM_052985.3(IFT122):c.1953C>T (p.Ser651=) 886057965 MedGen:CN119432,SNOMED CT:CN119432 3 129202474 129202474 C T 289449 single nucleotide variant NM_052985.3(IFT122):c.2457G>A (p.Val819=) 886057966 MedGen:CN119432,SNOMED CT:CN119432 3 129499997 129499997 G A 289449 single nucleotide variant NM_052985.3(IFT122):c.2457G>A (p.Val819=) 886057966 MedGen:CN119432,SNOMED CT:CN119432 3 129218840 129218840 G A 289452 single nucleotide variant NM_052985.3(IFT122):c.2568C>T (p.Arg856=) 61744218 MedGen:CN119432,SNOMED CT:CN119432 3 129502750 129502750 C T 289452 single nucleotide variant NM_052985.3(IFT122):c.2568C>T (p.Arg856=) 61744218 MedGen:CN119432,SNOMED CT:CN119432 3 129221593 129221593 C T 289453 single nucleotide variant NM_052985.3(IFT122):c.3416A>G (p.Tyr1139Cys) 774343448 MedGen:CN119432,SNOMED CT:CN119432 3 129515597 129515597 A G 289453 single nucleotide variant NM_052985.3(IFT122):c.3416A>G (p.Tyr1139Cys) 774343448 MedGen:CN119432,SNOMED CT:CN119432 3 129234440 129234440 A G 289454 single nucleotide variant NM_052985.3(IFT122):c.3789+3A>G 753825998 MedGen:CN119432,SNOMED CT:CN119432 3 129519735 129519735 A G 289454 single nucleotide variant NM_052985.3(IFT122):c.3789+3A>G 753825998 MedGen:CN119432,SNOMED CT:CN119432 3 129238578 129238578 A G 292443 single nucleotide variant NM_052985.3(IFT122):c.-206A>G 3138334 MedGen:CN119432,SNOMED CT:CN119432 3 129440125 129440125 A G 292443 single nucleotide variant NM_052985.3(IFT122):c.-206A>G 3138334 MedGen:CN119432,SNOMED CT:CN119432 3 129158968 129158968 A G 292446 single nucleotide variant NM_052985.3(IFT122):c.628C>T (p.Arg210Trp) 140547512 MedGen:CN119432,SNOMED CT:CN119432 3 129464693 129464693 C T 292446 single nucleotide variant NM_052985.3(IFT122):c.628C>T (p.Arg210Trp) 140547512 MedGen:CN119432,SNOMED CT:CN119432 3 129183536 129183536 C T 292455 single nucleotide variant NM_052985.3(IFT122):c.1392G>A (p.Glu464=) 111717774 MedGen:CN119432,SNOMED CT:CN119432 3 129478107 129478107 G A 292455 single nucleotide variant NM_052985.3(IFT122):c.1392G>A (p.Glu464=) 111717774 MedGen:CN119432,SNOMED CT:CN119432 3 129196950 129196950 G A 292461 single nucleotide variant NM_052985.3(IFT122):c.1866G>T (p.Ser622=) 150174636 MedGen:CN119432,SNOMED CT:CN119432 3 129483544 129483544 G T 292461 single nucleotide variant NM_052985.3(IFT122):c.1866G>T (p.Ser622=) 150174636 MedGen:CN119432,SNOMED CT:CN119432 3 129202387 129202387 G T 292467 single nucleotide variant NM_052985.3(IFT122):c.2037A>T (p.Lys679Asn) 777051654 MedGen:CN119432,SNOMED CT:CN119432 3 129488289 129488289 A T 292467 single nucleotide variant NM_052985.3(IFT122):c.2037A>T (p.Lys679Asn) 777051654 MedGen:CN119432,SNOMED CT:CN119432 3 129207132 129207132 A T 292468 single nucleotide variant NM_052985.3(IFT122):c.2730G>A (p.Glu910=) 201077232 MedGen:CN119432,SNOMED CT:CN119432 3 129504348 129504348 G A 292468 single nucleotide variant NM_052985.3(IFT122):c.2730G>A (p.Glu910=) 201077232 MedGen:CN119432,SNOMED CT:CN119432 3 129223191 129223191 G A 292469 single nucleotide variant NM_052985.3(IFT122):c.2782C>T (p.Arg928Cys) 773080594 MedGen:CN119432,SNOMED CT:CN119432 3 129504400 129504400 C T 292469 single nucleotide variant NM_052985.3(IFT122):c.2782C>T (p.Arg928Cys) 773080594 MedGen:CN119432,SNOMED CT:CN119432 3 129223243 129223243 C T 292492 single nucleotide variant NM_052985.3(IFT122):c.3307-9G>A 759975764 MedGen:CN119432,SNOMED CT:CN119432 3 129515479 129515479 G A 292492 single nucleotide variant NM_052985.3(IFT122):c.3307-9G>A 759975764 MedGen:CN119432,SNOMED CT:CN119432 3 129234322 129234322 G A 292494 single nucleotide variant NM_052985.3(IFT122):c.3418+7C>T 9836202 MedGen:CN119432,SNOMED CT:CN119432 3 129234449 129234449 C T 292494 single nucleotide variant NM_052985.3(IFT122):c.3418+7C>T 9836202 MedGen:CN119432,SNOMED CT:CN119432 3 129515606 129515606 C T 292496 single nucleotide variant NM_052985.3(IFT122):c.3723G>T (p.Leu1241=) 146778076 MedGen:CN119432,SNOMED CT:CN119432 3 129519666 129519666 G T 292496 single nucleotide variant NM_052985.3(IFT122):c.3723G>T (p.Leu1241=) 146778076 MedGen:CN119432,SNOMED CT:CN119432 3 129238509 129238509 G T 292498 single nucleotide variant NM_052985.3(IFT122):c.*16C>T 763993447 MedGen:CN119432,SNOMED CT:CN119432 3 129520281 129520281 C T 292498 single nucleotide variant NM_052985.3(IFT122):c.*16C>T 763993447 MedGen:CN119432,SNOMED CT:CN119432 3 129239124 129239124 C T 292616 single nucleotide variant NM_052985.3(IFT122):c.199C>A (p.Arg67Ser) 181971625 MedGen:CN119432,SNOMED CT:CN119432 3 129458604 129458604 C A 292616 single nucleotide variant NM_052985.3(IFT122):c.199C>A (p.Arg67Ser) 181971625 MedGen:CN119432,SNOMED CT:CN119432 3 129177447 129177447 C A 292617 single nucleotide variant NM_052985.3(IFT122):c.228C>T (p.Ser76=) 772835552 MedGen:CN119432,SNOMED CT:CN119432 3 129458633 129458633 C T 292617 single nucleotide variant NM_052985.3(IFT122):c.228C>T (p.Ser76=) 772835552 MedGen:CN119432,SNOMED CT:CN119432 3 129177476 129177476 C T 292632 single nucleotide variant NM_052985.3(IFT122):c.982C>T (p.Arg328Trp) 61744448 MedGen:CN119432,SNOMED CT:CN119432 3 129476327 129476327 C T 292632 single nucleotide variant NM_052985.3(IFT122):c.982C>T (p.Arg328Trp) 61744448 MedGen:CN119432,SNOMED CT:CN119432 3 129195170 129195170 C T 292636 single nucleotide variant NM_052985.3(IFT122):c.1091G>A (p.Arg364Gln) 376018883 MedGen:CN119432,SNOMED CT:CN119432 3 129476436 129476436 G A 292636 single nucleotide variant NM_052985.3(IFT122):c.1091G>A (p.Arg364Gln) 376018883 MedGen:CN119432,SNOMED CT:CN119432 3 129195279 129195279 G A 292648 single nucleotide variant NM_052985.3(IFT122):c.2171G>A (p.Arg724Gln) 140911243 MedGen:CN119432,SNOMED CT:CN119432 3 129492166 129492166 G A 292648 single nucleotide variant NM_052985.3(IFT122):c.2171G>A (p.Arg724Gln) 140911243 MedGen:CN119432,SNOMED CT:CN119432 3 129211009 129211009 G A 292654 single nucleotide variant NM_052985.3(IFT122):c.2307C>T (p.His769=) 116819033 MedGen:CN119432,SNOMED CT:CN119432 3 129495553 129495553 C T 292654 single nucleotide variant NM_052985.3(IFT122):c.2307C>T (p.His769=) 116819033 MedGen:CN119432,SNOMED CT:CN119432 3 129214396 129214396 C T 292657 single nucleotide variant NM_052985.3(IFT122):c.2334C>T (p.Thr778=) 545131069 MedGen:CN119432,SNOMED CT:CN119432 3 129495580 129495580 C T 292657 single nucleotide variant NM_052985.3(IFT122):c.2334C>T (p.Thr778=) 545131069 MedGen:CN119432,SNOMED CT:CN119432 3 129214423 129214423 C T 292664 single nucleotide variant NM_052985.3(IFT122):c.2586C>T (p.Cys862=) 141626835 MedGen:CN119432,SNOMED CT:CN119432 3 129502768 129502768 C T 292664 single nucleotide variant NM_052985.3(IFT122):c.2586C>T (p.Cys862=) 141626835 MedGen:CN119432,SNOMED CT:CN119432 3 129221611 129221611 C T 292669 single nucleotide variant NM_052985.3(IFT122):c.2753C>T (p.Pro918Leu) 147499719 MedGen:CN119432,SNOMED CT:CN119432 3 129504371 129504371 C T 292669 single nucleotide variant NM_052985.3(IFT122):c.2753C>T (p.Pro918Leu) 147499719 MedGen:CN119432,SNOMED CT:CN119432 3 129223214 129223214 C T 292672 single nucleotide variant NM_052985.3(IFT122):c.2834C>T (p.Ala945Val) 376549217 MedGen:CN119432,SNOMED CT:CN119432 3 129506439 129506439 C T 292672 single nucleotide variant NM_052985.3(IFT122):c.2834C>T (p.Ala945Val) 376549217 MedGen:CN119432,SNOMED CT:CN119432 3 129225282 129225282 C T 292675 single nucleotide variant NM_052985.3(IFT122):c.3421G>A (p.Val1141Met) 147517019 MedGen:CN119432,SNOMED CT:CN119432 3 129517471 129517471 G A 292675 single nucleotide variant NM_052985.3(IFT122):c.3421G>A (p.Val1141Met) 147517019 MedGen:CN119432,SNOMED CT:CN119432 3 129236314 129236314 G A 292680 single nucleotide variant NM_052985.3(IFT122):c.3456G>T (p.Gly1152=) 111668739 MedGen:CN119432,SNOMED CT:CN119432 3 129517506 129517506 G T 292680 single nucleotide variant NM_052985.3(IFT122):c.3456G>T (p.Gly1152=) 111668739 MedGen:CN119432,SNOMED CT:CN119432 3 129236349 129236349 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 3 129195663 rs2301570 C T rs2301570 3.91E-05 Depression (quantitative trait) HPOID:0000716 DOID:1596 C intron GWASdb_trait 3 129210867 rs2285353 C A rs2285353 3.27E-05 Depression (quantitative trait) HPOID:0000716 DOID:1596 C intron GWASdb_trait 3 129210977 rs2285354 G C rs2285354 9.72E-04 Depression (quantitative trait) HPOID:0000716 DOID:1596 C intron GWASdb_trait 3 129212271 rs3774769 G A rs3774769 3.84E-05 Depression (quantitative trait) HPOID:0000716 DOID:1596 G intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000163913.11 IFT122 606045