Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 24315 single nucleotide variant GCH1, IVS2, A-G, -2 -1 MedGen:C1851920,OMIM:128230,Orphanet:ORPHA255 na -1 -1 na na 24310 single nucleotide variant NM_000161.2(GCH1):c.262C>T (p.Arg88Trp) 104894433 MedGen:C1851920,OMIM:128230,Orphanet:ORPHA255 14 55369120 55369120 G A 24310 single nucleotide variant NM_000161.2(GCH1):c.262C>T (p.Arg88Trp) 104894433 MedGen:C1851920,OMIM:128230,Orphanet:ORPHA255 14 54902402 54902402 G A 24311 single nucleotide variant NM_000161.2(GCH1):c.401A>T (p.Asp134Val) 104894437 MedGen:C1851920,OMIM:128230,Orphanet:ORPHA255 14 55332097 55332097 T A 24311 single nucleotide variant NM_000161.2(GCH1):c.401A>T (p.Asp134Val) 104894437 MedGen:C1851920,OMIM:128230,Orphanet:ORPHA255 14 54865379 54865379 T A 24312 insertion GCH1, 2-BP INS -1 MedGen:C1851920,OMIM:128230,Orphanet:ORPHA255 na -1 -1 na na 24313 single nucleotide variant NM_000161.2(GCH1):c.602G>A (p.Gly201Glu) 104894438 MedGen:C1851920,OMIM:128230,Orphanet:ORPHA255 14 55312510 55312510 C T 24313 single nucleotide variant NM_000161.2(GCH1):c.602G>A (p.Gly201Glu) 104894438 MedGen:C1851920,OMIM:128230,Orphanet:ORPHA255 14 54845792 54845792 C T 24314 single nucleotide variant GCH1, IVS1, A-G, -2 -1 MedGen:C1851920,OMIM:128230,Orphanet:ORPHA255 na -1 -1 na na 24316 single nucleotide variant NM_000161.2(GCH1):c.3G>C (p.Met1Ile) 104894439 MedGen:C1851920,OMIM:128230,Orphanet:ORPHA255 14 55369379 55369379 C G 24316 single nucleotide variant NM_000161.2(GCH1):c.3G>C (p.Met1Ile) 104894439 MedGen:C1851920,OMIM:128230,Orphanet:ORPHA255 14 54902661 54902661 C G 24317 single nucleotide variant NM_000161.2(GCH1):c.431A>C (p.His144Pro) 104894440 MedGen:C1851920,OMIM:128230,Orphanet:ORPHA255 14 55332067 55332067 T G 24317 single nucleotide variant NM_000161.2(GCH1):c.431A>C (p.His144Pro) 104894440 MedGen:C1851920,OMIM:128230,Orphanet:ORPHA255 14 54865349 54865349 T G 24318 single nucleotide variant GCH1, IVS2, G-C, +1 -1 MedGen:C1851920,OMIM:128230,Orphanet:ORPHA255 na -1 -1 na na 24319 deletion GCH1, 1-BP DEL, 351A -1 MedGen:C2673535,Orphanet:ORPHA101150 na -1 -1 na na 24320 single nucleotide variant NM_000161.2(GCH1):c.662T>C (p.Met221Thr) 104894434 MedGen:C2673535,Orphanet:ORPHA101150 14 55310826 55310826 A G 24320 single nucleotide variant NM_000161.2(GCH1):c.662T>C (p.Met221Thr) 104894434 MedGen:C2673535,Orphanet:ORPHA101150 14 54844108 54844108 A G 24321 single nucleotide variant NM_000161.2(GCH1):c.323G>A (p.Gly108Asp) 104894435 MedGen:C2673535,Orphanet:ORPHA101150 14 55369059 55369059 C T 24321 single nucleotide variant NM_000161.2(GCH1):c.323G>A (p.Gly108Asp) 104894435 MedGen:C2673535,Orphanet:ORPHA101150 14 54902341 54902341 C T 24322 single nucleotide variant NM_000161.2(GCH1):c.671A>G (p.Lys224Arg) 41298442 MedGen:C1851920,OMIM:128230,Orphanet:ORPHA255;MedGen:C2673535,Orphanet:ORPHA101150 14 55310817 55310817 T C 24322 single nucleotide variant NM_000161.2(GCH1):c.671A>G (p.Lys224Arg) 41298442 MedGen:C1851920,OMIM:128230,Orphanet:ORPHA255;MedGen:C2673535,Orphanet:ORPHA101150 14 54844099 54844099 T C 24323 single nucleotide variant NM_000161.2(GCH1):c.586G>T (p.Ala196Ser) 104894436 MedGen:C1851920,OMIM:128230,Orphanet:ORPHA255 14 55312526 55312526 C A 24323 single nucleotide variant NM_000161.2(GCH1):c.586G>T (p.Ala196Ser) 104894436 MedGen:C1851920,OMIM:128230,Orphanet:ORPHA255 14 54845808 54845808 C A 24324 single nucleotide variant NM_000161.2(GCH1):c.404T>A (p.Ile135Lys) 104894441 MedGen:C1851920,OMIM:128230,Orphanet:ORPHA255 14 55332094 55332094 A T 24324 single nucleotide variant NM_000161.2(GCH1):c.404T>A (p.Ile135Lys) 104894441 MedGen:C1851920,OMIM:128230,Orphanet:ORPHA255 14 54865376 54865376 A T 24325 single nucleotide variant NM_000161.2(GCH1):c.747G>C (p.Arg249Ser) 104894442 MedGen:C2673535,Orphanet:ORPHA101150 14 55310741 55310741 C G 24325 single nucleotide variant NM_000161.2(GCH1):c.747G>C (p.Arg249Ser) 104894442 MedGen:C2673535,Orphanet:ORPHA101150 14 54844023 54844023 C G 24326 single nucleotide variant NM_000161.2(GCH1):c.633G>A (p.Met211Ile) 104894443 MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 55310855 55310855 C T 24326 single nucleotide variant NM_000161.2(GCH1):c.633G>A (p.Met211Ile) 104894443 MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 54844137 54844137 C T 24327 single nucleotide variant NM_000161.2(GCH1):c.142C>T (p.Gln48Ter) 104894444 MedGen:C1851920,OMIM:128230,Orphanet:ORPHA255 14 55369240 55369240 G A 24327 single nucleotide variant NM_000161.2(GCH1):c.142C>T (p.Gln48Ter) 104894444 MedGen:C1851920,OMIM:128230,Orphanet:ORPHA255 14 54902522 54902522 G A 24328 single nucleotide variant GCH1, IVS5, G-A, +1 -1 MedGen:C1851920,OMIM:128230,Orphanet:ORPHA255 na -1 -1 na na 24329 single nucleotide variant NM_000161.2(GCH1):c.551G>A (p.Arg184His) 104894445 MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 55312561 55312561 C T 24329 single nucleotide variant NM_000161.2(GCH1):c.551G>A (p.Arg184His) 104894445 MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 54845843 54845843 C T 24330 deletion GCH1, DEL -1 MedGen:C1851920,OMIM:128230,Orphanet:ORPHA255 na -1 -1 na na 24331 single nucleotide variant NM_000161.2(GCH1):c.595C>G (p.Pro199Ala) 137852633 MedGen:C2673535,Orphanet:ORPHA101150 14 55312517 55312517 G C 24331 single nucleotide variant NM_000161.2(GCH1):c.595C>G (p.Pro199Ala) 137852633 MedGen:C2673535,Orphanet:ORPHA101150 14 54845799 54845799 G C 171166 single nucleotide variant NM_000161.2(GCH1):c.610G>A (p.Val204Ile) 200891969 MedGen:CN221588;MedGen:CN169374 14 55312502 55312502 C T 171166 single nucleotide variant NM_000161.2(GCH1):c.610G>A (p.Val204Ile) 200891969 MedGen:CN221588;MedGen:CN169374 14 54845784 54845784 C T 171167 single nucleotide variant NM_000161.2(GCH1):c.206C>T (p.Pro69Leu) 56127440 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467;MedGen:C0751436,Orphanet:ORPHA238583 14 55369176 55369176 G A 171167 single nucleotide variant NM_000161.2(GCH1):c.206C>T (p.Pro69Leu) 56127440 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467;MedGen:C0751436,Orphanet:ORPHA238583 14 54902458 54902458 G A 254991 single nucleotide variant NM_000161.2(GCH1):c.211C>T (p.Leu71=) 141883031 MedGen:CN169374 14 55369171 55369171 G A 254991 single nucleotide variant NM_000161.2(GCH1):c.211C>T (p.Leu71=) 141883031 MedGen:CN169374 14 54902453 54902453 G A 254992 single nucleotide variant NM_000161.2(GCH1):c.-40C>T 28458175 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467;MedGen:CN169374 14 55369421 55369421 G A 254992 single nucleotide variant NM_000161.2(GCH1):c.-40C>T 28458175 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467;MedGen:CN169374 14 54902703 54902703 G A 260057 deletion NM_000161.2(GCH1):c.631_632delAT (p.Met211Valfs) 886039379 MedGen:CN221809 14 55310856 55310857 AT - 260057 deletion NM_000161.2(GCH1):c.631_632delAT (p.Met211Valfs) 886039379 MedGen:CN221809 14 54844138 54844139 AT - 260058 deletion NM_000161.2(GCH1):c.610delG (p.Val204Terfs) 886039378 MedGen:CN221809 14 55312502 55312502 C - 260058 deletion NM_000161.2(GCH1):c.610delG (p.Val204Terfs) 886039378 MedGen:CN221809 14 54845784 54845784 C - 264600 single nucleotide variant NM_000161.2(GCH1):c.159G>A (p.Trp53Ter) 886041708 MedGen:CN221809 14 55369223 55369223 C T 264600 single nucleotide variant NM_000161.2(GCH1):c.159G>A (p.Trp53Ter) 886041708 MedGen:CN221809 14 54902505 54902505 C T 268745 single nucleotide variant NM_000161.2(GCH1):c.284C>T (p.Pro95Leu) 886042892 MedGen:CN169374 14 54902380 54902380 G A 268745 single nucleotide variant NM_000161.2(GCH1):c.284C>T (p.Pro95Leu) 886042892 MedGen:CN169374 14 55369098 55369098 G A 320705 single nucleotide variant NM_000161.2(GCH1):c.*1824A>C 754395380 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 55308911 55308911 T G 320705 single nucleotide variant NM_000161.2(GCH1):c.*1824A>C 754395380 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 54842193 54842193 T G 320709 single nucleotide variant NM_000161.2(GCH1):c.*1230C>T 56130647 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 54842787 54842787 G A 320709 single nucleotide variant NM_000161.2(GCH1):c.*1230C>T 56130647 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 55309505 55309505 G A 320711 deletion NM_000161.2(GCH1):c.*892_*894delCTT 145762799 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 54843123 54843125 AAG - 320711 deletion NM_000161.2(GCH1):c.*892_*894delCTT 145762799 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 55309841 55309843 AAG - 320715 single nucleotide variant NM_000161.2(GCH1):c.*617A>G 886050546 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 54843400 54843400 T C 320715 single nucleotide variant NM_000161.2(GCH1):c.*617A>G 886050546 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 55310118 55310118 T C 320716 single nucleotide variant NM_000161.2(GCH1):c.*507C>G 886050547 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 54843510 54843510 G C 320716 single nucleotide variant NM_000161.2(GCH1):c.*507C>G 886050547 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 55310228 55310228 G C 320717 single nucleotide variant NM_000161.2(GCH1):c.*367G>A 886050548 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 54843650 54843650 C T 320717 single nucleotide variant NM_000161.2(GCH1):c.*367G>A 886050548 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 55310368 55310368 C T 320722 single nucleotide variant NM_000161.2(GCH1):c.*278C>T 756583192 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 54843739 54843739 G A 320722 single nucleotide variant NM_000161.2(GCH1):c.*278C>T 756583192 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 55310457 55310457 G A 320723 single nucleotide variant NM_000161.2(GCH1):c.297C>T (p.Ala99=) 776450369 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 54902367 54902367 G A 320723 single nucleotide variant NM_000161.2(GCH1):c.297C>T (p.Ala99=) 776450369 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 55369085 55369085 G A 320725 single nucleotide variant NM_000161.2(GCH1):c.68C>T (p.Pro23Leu) 41298432 MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 55369314 55369314 G A 320725 single nucleotide variant NM_000161.2(GCH1):c.68C>T (p.Pro23Leu) 41298432 MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 54902596 54902596 G A 320735 single nucleotide variant NM_000161.2(GCH1):c.-72C>T 886050551 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 55369453 55369453 G A 320735 single nucleotide variant NM_000161.2(GCH1):c.-72C>T 886050551 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 54902735 54902735 G A 320736 single nucleotide variant NM_000161.2(GCH1):c.-106G>A 886050553 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 55369487 55369487 C T 320736 single nucleotide variant NM_000161.2(GCH1):c.-106G>A 886050553 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 54902769 54902769 C T 329510 single nucleotide variant NM_000161.2(GCH1):c.*1915T>C 17128017 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 54842102 54842102 A G 329510 single nucleotide variant NM_000161.2(GCH1):c.*1915T>C 17128017 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 55308820 55308820 A G 329511 single nucleotide variant NM_000161.2(GCH1):c.*1628A>C 185031007 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 55309107 55309107 T G 329511 single nucleotide variant NM_000161.2(GCH1):c.*1628A>C 185031007 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 54842389 54842389 T G 329513 duplication NM_000161.2(GCH1):c.*1463_*1464dupAT 55885280 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 55309271 55309272 AT ATAT 329513 duplication NM_000161.2(GCH1):c.*1463_*1464dupAT 55885280 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 54842553 54842554 AT ATAT 329514 single nucleotide variant NM_000161.2(GCH1):c.*1257C>T 763425111 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 54842760 54842760 G A 329514 single nucleotide variant NM_000161.2(GCH1):c.*1257C>T 763425111 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 55309478 55309478 G A 329519 single nucleotide variant NM_000161.2(GCH1):c.*1176C>G 113211390 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 54842841 54842841 G C 329519 single nucleotide variant NM_000161.2(GCH1):c.*1176C>G 113211390 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 55309559 55309559 G C 329520 single nucleotide variant NM_000161.2(GCH1):c.*1130C>G 543818323 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 54842887 54842887 G C 329520 single nucleotide variant NM_000161.2(GCH1):c.*1130C>G 543818323 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 55309605 55309605 G C 329523 single nucleotide variant NM_000161.2(GCH1):c.*727A>G 138578359 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 54843290 54843290 T C 329523 single nucleotide variant NM_000161.2(GCH1):c.*727A>G 138578359 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 55310008 55310008 T C 329532 single nucleotide variant NM_000161.2(GCH1):c.*715G>T 886050545 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 54843302 54843302 C A 329532 single nucleotide variant NM_000161.2(GCH1):c.*715G>T 886050545 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 55310020 55310020 C A 329537 single nucleotide variant NM_000161.2(GCH1):c.627-12C>T 886050549 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 54844155 54844155 G A 329537 single nucleotide variant NM_000161.2(GCH1):c.627-12C>T 886050549 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 55310873 55310873 G A 329538 single nucleotide variant NM_000161.2(GCH1):c.626+9G>T 374007793 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 54845759 54845759 C A 329538 single nucleotide variant NM_000161.2(GCH1):c.626+9G>T 374007793 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 55312477 55312477 C A 329541 single nucleotide variant NM_000161.2(GCH1):c.543T>G (p.Val181=) 765670568 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 54845851 54845851 A C 329541 single nucleotide variant NM_000161.2(GCH1):c.543T>G (p.Val181=) 765670568 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 55312569 55312569 A C 329558 single nucleotide variant NM_000161.2(GCH1):c.69C>T (p.Pro23=) 767294964 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 55369313 55369313 G A 329558 single nucleotide variant NM_000161.2(GCH1):c.69C>T (p.Pro23=) 767294964 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 54902595 54902595 G A 329560 single nucleotide variant NM_000161.2(GCH1):c.-5G>C 886050550 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 55369386 55369386 C G 329560 single nucleotide variant NM_000161.2(GCH1):c.-5G>C 886050550 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 54902668 54902668 C G 329573 single nucleotide variant NM_000161.2(GCH1):c.-98C>T 886050552 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 55369479 55369479 G A 329573 single nucleotide variant NM_000161.2(GCH1):c.-98C>T 886050552 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 54902761 54902761 G A 336147 single nucleotide variant NM_000161.2(GCH1):c.*1907A>G 886050542 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 55308828 55308828 T C 336147 single nucleotide variant NM_000161.2(GCH1):c.*1907A>G 886050542 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 54842110 54842110 T C 336154 single nucleotide variant NM_000161.2(GCH1):c.*1473A>G 886050543 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 55309262 55309262 T C 336154 single nucleotide variant NM_000161.2(GCH1):c.*1473A>G 886050543 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 54842544 54842544 T C 336160 single nucleotide variant NM_000161.2(GCH1):c.*1183C>T 76009965 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 54842834 54842834 G A 336160 single nucleotide variant NM_000161.2(GCH1):c.*1183C>T 76009965 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 55309552 55309552 G A 336161 single nucleotide variant NM_000161.2(GCH1):c.*1122A>T 56126158 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 54842895 54842895 T A 336161 single nucleotide variant NM_000161.2(GCH1):c.*1122A>T 56126158 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 55309613 55309613 T A 336164 insertion NM_000161.2(GCH1):c.*1056_*1057insAT 144676716 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 54842960 54842961 - AT 336164 insertion NM_000161.2(GCH1):c.*1056_*1057insAT 144676716 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 55309678 55309679 - AT 336166 single nucleotide variant NM_000161.2(GCH1):c.*1010C>T 764569623 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 54843007 54843007 G A 336166 single nucleotide variant NM_000161.2(GCH1):c.*1010C>T 764569623 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 55309725 55309725 G A 336167 single nucleotide variant NM_000161.2(GCH1):c.*732A>G 45454691 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 54843285 54843285 T C 336167 single nucleotide variant NM_000161.2(GCH1):c.*732A>G 45454691 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 55310003 55310003 T C 336168 single nucleotide variant NM_000161.2(GCH1):c.*612C>T 551381738 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 54843405 54843405 G A 336168 single nucleotide variant NM_000161.2(GCH1):c.*612C>T 551381738 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 55310123 55310123 G A 336174 deletion NM_000161.2(GCH1):c.*159_*162delAATA 752359690 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 54843855 54843858 TATT - 336174 deletion NM_000161.2(GCH1):c.*159_*162delAATA 752359690 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 55310573 55310576 TATT - 336182 single nucleotide variant NM_000161.2(GCH1):c.-56G>A 866010535 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 55369437 55369437 C T 336182 single nucleotide variant NM_000161.2(GCH1):c.-56G>A 866010535 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 54902719 54902719 C T 336185 single nucleotide variant NM_000161.2(GCH1):c.-121T>C 1753589 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 54902784 54902784 A G 336185 single nucleotide variant NM_000161.2(GCH1):c.-121T>C 1753589 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 55369502 55369502 A G 338039 single nucleotide variant NM_000161.2(GCH1):c.*1719C>T 551251353 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 55309016 55309016 G A 338039 single nucleotide variant NM_000161.2(GCH1):c.*1719C>T 551251353 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 54842298 54842298 G A 338040 single nucleotide variant NM_000161.2(GCH1):c.*1479G>T 533240612 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 55309256 55309256 C A 338040 single nucleotide variant NM_000161.2(GCH1):c.*1479G>T 533240612 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 54842538 54842538 C A 338042 single nucleotide variant NM_000161.2(GCH1):c.*1283A>C 886050544 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 55309452 55309452 T G 338042 single nucleotide variant NM_000161.2(GCH1):c.*1283A>C 886050544 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 54842734 54842734 T G 338045 single nucleotide variant NM_000161.2(GCH1):c.*1142G>A 10151500 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 54842875 54842875 C T 338045 single nucleotide variant NM_000161.2(GCH1):c.*1142G>A 10151500 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 55309593 55309593 C T 338046 single nucleotide variant NM_000161.2(GCH1):c.*830A>T 542811477 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 54843187 54843187 T A 338046 single nucleotide variant NM_000161.2(GCH1):c.*830A>T 542811477 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 55309905 55309905 T A 338050 single nucleotide variant NM_000161.2(GCH1):c.*736A>G 150176097 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 54843281 54843281 T C 338050 single nucleotide variant NM_000161.2(GCH1):c.*736A>G 150176097 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 55309999 55309999 T C 338051 single nucleotide variant NM_000161.2(GCH1):c.*243C>T 841 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 54843774 54843774 G A 338051 single nucleotide variant NM_000161.2(GCH1):c.*243C>T 841 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 55310492 55310492 G A 338056 single nucleotide variant NM_000161.2(GCH1):c.*20C>T 143111433 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 54843997 54843997 G A 338056 single nucleotide variant NM_000161.2(GCH1):c.*20C>T 143111433 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 55310715 55310715 G A 338061 single nucleotide variant NM_000161.2(GCH1):c.*12T>C 190993883 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 54844005 54844005 A G 338061 single nucleotide variant NM_000161.2(GCH1):c.*12T>C 190993883 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 55310723 55310723 A G 338066 single nucleotide variant NM_000161.2(GCH1):c.582G>A (p.Thr194=) 199836777 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 54845812 54845812 C T 338066 single nucleotide variant NM_000161.2(GCH1):c.582G>A (p.Thr194=) 199836777 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 55312530 55312530 C T 338067 single nucleotide variant NM_000161.2(GCH1):c.509+8T>A 753570450 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 54859673 54859673 A T 338067 single nucleotide variant NM_000161.2(GCH1):c.509+8T>A 753570450 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 55326391 55326391 A T 338071 single nucleotide variant NM_000161.2(GCH1):c.507G>A (p.Ala169=) 150158277 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 54859683 54859683 C T 338071 single nucleotide variant NM_000161.2(GCH1):c.507G>A (p.Ala169=) 150158277 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 55326401 55326401 C T 338072 single nucleotide variant NM_000161.2(GCH1):c.-125A>C 886050554 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 55369506 55369506 T G 338072 single nucleotide variant NM_000161.2(GCH1):c.-125A>C 886050554 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 54902788 54902788 T G 338096 single nucleotide variant NM_000161.2(GCH1):c.-131C>T 115939621 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 55369512 55369512 G A 338096 single nucleotide variant NM_000161.2(GCH1):c.-131C>T 115939621 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 54902794 54902794 G A 353302 single nucleotide variant NM_000161.2(GCH1):c.-169C>T 538405738 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 55369550 55369550 G A 353302 single nucleotide variant NM_000161.2(GCH1):c.-169C>T 538405738 MedGen:CN221588;MedGen:C0268467,OMIM:233910,Orphanet:ORPHA2102,SNOMED CT:C0268467 14 54902832 54902832 G A

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 55310492 rs841 G A rs841 2.20E-53 Protein biomarker HPOID:0002664|HPOID:0001626|HPOID:0002715 NA C UTR-3 GWASdb_trait 14 55311569 rs752688 C T rs752688 2.21E-53 Protein biomarker HPOID:0002664|HPOID:0001626|HPOID:0002715 NA C intron GWASdb_trait 14 55315908 rs10131232 G A rs10131232 8.27E-64 Protein biomarker HPOID:0002664|HPOID:0001626|HPOID:0002715 NA A intron GWASdb_trait 14 55316270 rs10133662 A G rs10133662 8.12E-64 Protein biomarker HPOID:0002664|HPOID:0001626|HPOID:0002715 NA G intron GWASdb_trait 14 55320563 rs4411417 T C rs4411417 2.16E-53 Protein biomarker HPOID:0002664|HPOID:0001626|HPOID:0002715 NA T intron GWASdb_trait 14 55320785 rs2878168 G A rs2878168 2.57E-53 Protein biomarker HPOID:0002664|HPOID:0001626|HPOID:0002715 NA G intron GWASdb_trait 14 55322851 rs7155309 T C rs7155309 2.12E-53 Protein biomarker HPOID:0002664|HPOID:0001626|HPOID:0002715 NA T intron GWASdb_trait 14 55324848 rs8007201 A G rs8007201 7.65E-64 Protein biomarker HPOID:0002664|HPOID:0001626|HPOID:0002715 NA G intron GWASdb_trait 14 55325583 rs12587434 T G rs12587434 1.86E-53 Protein biomarker HPOID:0002664|HPOID:0001626|HPOID:0002715 NA T intron GWASdb_trait 14 55325823 rs17128028 C T rs17128028 3.29E-17 HDL cholesterol HPOID:0003107 DOID:14502|DOID:1461|DOID:3393 C intron GWASdb_trait 14 55325862 rs12589758 A T rs12589758 2.02E-53 Protein biomarker HPOID:0002664|HPOID:0001626|HPOID:0002715 NA A intron GWASdb_trait 14 55328635 rs9671371 C T rs9671371 2.81E-63 Protein biomarker HPOID:0002664|HPOID:0001626|HPOID:0002715 NA T intron GWASdb_trait 14 55329080 rs9671455 C G rs9671455 7.18E-54 Protein biomarker HPOID:0002664|HPOID:0001626|HPOID:0002715 NA C intron GWASdb_trait 14 55336751 rs2183081 A G rs2183081 1.03E-38 Protein biomarker HPOID:0002664|HPOID:0001626|HPOID:0002715 NA C intron GWASdb_trait 14 55343879 rs17128050 T C rs17128050 5.22E-06 Obesity-related traits HPOID:0001513 DOID:9970 T intron GWASdb_trait 14 55348118 rs3783637 C T rs3783637 2.00E-06 Rheumatoid arthritis HPOID:0001370 DOID:7148 C intron GWASdb_trait 14 55348118 rs3783637 C T rs3783637 1.00E-06 Obesity-related traits HPOID:0001513 DOID:9970 C intron GWASdb_trait 14 55348118 rs3783637 C T rs3783637 6.00E-08 Obesity-related traits HPOID:0001513 DOID:9970 C intron GWASdb_trait 14 55350696 rs8004018 A G rs8004018 7.55E-06 Obesity-related traits HPOID:0001513 DOID:9970 A intron GWASdb_trait 14 55354869 rs10498472 T G rs10498472 5.55E-08 Protein biomarker HPOID:0002664|HPOID:0001626|HPOID:0002715 NA T intron GWASdb_trait 14 55355031 rs998259 C T rs998259 3.59E-06 Atrial fibrillation HPOID:0005110 DOID:0050650 C intron GWASdb_trait 14 55355031 rs998259 C T rs998259 2.58E-13 Protein biomarker HPOID:0002664|HPOID:0001626|HPOID:0002715 NA C intron GWASdb_trait 14 55356394 rs10149080 C T rs10149080 4.25E-16 HDL cholesterol HPOID:0003107 DOID:14502|DOID:1461|DOID:3393 C intron GWASdb_trait 14 55356525 rs17128052 G C rs17128052 1.49E-62 Protein biomarker HPOID:0002664|HPOID:0001626|HPOID:0002715 NA G intron GWASdb_trait 14 55358665 rs7147286 G A rs7147286 7.55E-05 Parkinson's disease HPOID:0001300 DOID:14330 A intron GWASdb_trait 14 55358665 rs7147286 G A rs7147286 5.11E-42 Protein biomarker HPOID:0002664|HPOID:0001626|HPOID:0002715 NA A intron GWASdb_trait 14 55358877 rs7147201 A G rs7147201 8.41E-63 Protein biomarker HPOID:0002664|HPOID:0001626|HPOID:0002715 NA G intron GWASdb_trait 14 55359822 rs17832263 G A rs17832263 2.35E-08 Protein biomarker HPOID:0002664|HPOID:0001626|HPOID:0002715 NA G intron GWASdb_trait 14 55360139 rs3783641 T A rs3783641 4.52E-63 Protein biomarker HPOID:0002664|HPOID:0001626|HPOID:0002715 NA T intron GWASdb_trait 14 55360203 rs3783642 T C rs3783642 2.95E-53 Protein biomarker HPOID:0002664|HPOID:0001626|HPOID:0002715 NA C intron GWASdb_trait 14 55361836 rs8017210 G A rs8017210 2.54E-63 Protein biomarker HPOID:0002664|HPOID:0001626|HPOID:0002715 NA G intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000131979.18 GCH1 600225