Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 22135 single nucleotide variant NM_001008211.1(OPTN):c.148G>A (p.Glu50Lys) 28939688 MedGen:C1842026 10 13151270 13151270 G A 22135 single nucleotide variant NM_001008211.1(OPTN):c.148G>A (p.Glu50Lys) 28939688 MedGen:C1842026 10 13109270 13109270 G A 22136 insertion OPTN, 2-BP INS, 691AG -1 MedGen:C1842026 na -1 -1 na na 22137 single nucleotide variant NM_001008211.1(OPTN):c.1634G>A (p.Arg545Gln) 75654767 MedGen:CN239196;MedGen:C1842026;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13178766 13178766 G A 22137 single nucleotide variant NM_001008211.1(OPTN):c.1634G>A (p.Arg545Gln) 75654767 MedGen:CN239196;MedGen:C1842026;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13136766 13136766 G A 22138 single nucleotide variant NM_001008211.1(OPTN):c.293T>A (p.Met98Lys) 11258194 MedGen:CN239196;MedGen:C1842026;MedGen:C1847730,OMIM:606657;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573;MedGen:CN169374 10 13152400 13152400 T A 22138 single nucleotide variant NM_001008211.1(OPTN):c.293T>A (p.Met98Lys) 11258194 MedGen:CN239196;MedGen:C1842026;MedGen:C1847730,OMIM:606657;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573;MedGen:CN169374 10 13110400 13110400 T A 22139 deletion OPTN, EX5DEL -1 MedGen:C3150692,OMIM:613435 na -1 -1 na na 22140 single nucleotide variant NM_001008211.1(OPTN):c.1192C>T (p.Gln398Ter) 267606928 MedGen:C3150692,OMIM:613435 10 13167989 13167989 C T 22140 single nucleotide variant NM_001008211.1(OPTN):c.1192C>T (p.Gln398Ter) 267606928 MedGen:C3150692,OMIM:613435 10 13125989 13125989 C T 22141 single nucleotide variant NM_001008211.1(OPTN):c.1433A>G (p.Glu478Gly) 267606929 MedGen:C3150692,OMIM:613435 10 13174098 13174098 A G 22141 single nucleotide variant NM_001008211.1(OPTN):c.1433A>G (p.Glu478Gly) 267606929 MedGen:C3150692,OMIM:613435 10 13132098 13132098 A G 101916 single nucleotide variant NM_001008211.1(OPTN):c.102G>A (p.Thr34=) 2234968 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573;MedGen:CN169374 10 13151224 13151224 G A 101916 single nucleotide variant NM_001008211.1(OPTN):c.102G>A (p.Thr34=) 2234968 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573;MedGen:CN169374 10 13109224 13109224 G A 101917 single nucleotide variant NM_021980.4(OPTN):c.123G>A (p.Leu41=) 11591687 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573;MedGen:CN169374 10 13151245 13151245 G A 101917 single nucleotide variant NM_021980.4(OPTN):c.123G>A (p.Leu41=) 11591687 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573;MedGen:CN169374 10 13109245 13109245 G A 189069 deletion NM_001008211.1(OPTN):c.917_921delTGACA (p.Thr307Serfs) 786205611 MedGen:CN221809 10 13166029 13166033 TGACA - 189069 deletion NM_001008211.1(OPTN):c.917_921delTGACA (p.Thr307Serfs) 786205611 MedGen:CN221809 10 13124029 13124033 TGACA - 195007 single nucleotide variant NM_001008211.1(OPTN):c.553-5C>T 2244380 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573;MedGen:CN169374 10 13158262 13158262 C T 195007 single nucleotide variant NM_001008211.1(OPTN):c.553-5C>T 2244380 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573;MedGen:CN169374 10 13116262 13116262 C T 253707 single nucleotide variant NM_001008211.1(OPTN):c.370-14C>G 886038367 MedGen:CN169374 10 13112439 13112439 C G 253707 single nucleotide variant NM_001008211.1(OPTN):c.370-14C>G 886038367 MedGen:CN169374 10 13154439 13154439 C G 253708 single nucleotide variant NM_001008211.1(OPTN):c.489A>G (p.Glu163=) 113811959 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573;MedGen:CN169374 10 13112572 13112572 A G 253708 single nucleotide variant NM_001008211.1(OPTN):c.489A>G (p.Glu163=) 113811959 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573;MedGen:CN169374 10 13154572 13154572 A G 253709 single nucleotide variant NM_001008211.1(OPTN):c.553-10G>A 11258210 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573;MedGen:CN169374 10 13116257 13116257 G A 253709 single nucleotide variant NM_001008211.1(OPTN):c.553-10G>A 11258210 MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573;MedGen:CN169374 10 13158257 13158257 G A 253710 single nucleotide variant NM_001008211.1(OPTN):c.626+24G>A 11258211 MedGen:CN169374 10 13158364 13158364 G A 253710 single nucleotide variant NM_001008211.1(OPTN):c.626+24G>A 11258211 MedGen:CN169374 10 13116364 13116364 G A 253711 single nucleotide variant NM_001008211.1(OPTN):c.1324C>T (p.Leu442=) 367641761 MedGen:CN169374 10 13127826 13127826 C T 253711 single nucleotide variant NM_001008211.1(OPTN):c.1324C>T (p.Leu442=) 367641761 MedGen:CN169374 10 13169826 13169826 C T 253712 single nucleotide variant NM_001008211.1(OPTN):c.1613-48C>A 10906310 MedGen:CN169374 10 13178697 13178697 C A 253712 single nucleotide variant NM_001008211.1(OPTN):c.1613-48C>A 10906310 MedGen:CN169374 10 13136697 13136697 C A 309724 single nucleotide variant NM_021980.4(OPTN):c.-120G>T 886046817 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13100194 13100194 G T 309724 single nucleotide variant NM_021980.4(OPTN):c.-120G>T 886046817 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13142194 13142194 G T 309725 single nucleotide variant NM_021980.4(OPTN):c.-103C>G 2580915 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13100211 13100211 C G 309725 single nucleotide variant NM_021980.4(OPTN):c.-103C>G 2580915 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13142211 13142211 C G 309726 single nucleotide variant NM_021980.4(OPTN):c.-12+13A>G 556917167 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13100315 13100315 A G 309726 single nucleotide variant NM_021980.4(OPTN):c.-12+13A>G 556917167 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13142315 13142315 A G 309727 single nucleotide variant NM_021980.4(OPTN):c.447G>A (p.Arg149=) 555741399 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13112530 13112530 G A 309727 single nucleotide variant NM_021980.4(OPTN):c.447G>A (p.Arg149=) 555741399 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13154530 13154530 G A 309732 single nucleotide variant NM_021980.4(OPTN):c.1427A>G (p.His476Arg) 886046821 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13132092 13132092 A G 309732 single nucleotide variant NM_021980.4(OPTN):c.1427A>G (p.His476Arg) 886046821 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13174092 13174092 A G 309734 single nucleotide variant NM_021980.4(OPTN):c.*269C>T 111484304 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13179135 13179135 C T 309734 single nucleotide variant NM_021980.4(OPTN):c.*269C>T 111484304 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13137135 13137135 C T 309739 single nucleotide variant NM_021980.4(OPTN):c.*1042T>G 886046827 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13137908 13137908 T G 309739 single nucleotide variant NM_021980.4(OPTN):c.*1042T>G 886046827 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13179908 13179908 T G 309743 single nucleotide variant NM_021980.4(OPTN):c.*1285T>C 560947786 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13138151 13138151 T C 309743 single nucleotide variant NM_021980.4(OPTN):c.*1285T>C 560947786 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13180151 13180151 T C 314575 single nucleotide variant NM_021980.4(OPTN):c.-227G>T 3814657 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13100087 13100087 G T 314575 single nucleotide variant NM_021980.4(OPTN):c.-227G>T 3814657 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13142087 13142087 G T 314577 single nucleotide variant NM_021980.4(OPTN):c.-161T>C 71492279 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13100153 13100153 T C 314577 single nucleotide variant NM_021980.4(OPTN):c.-161T>C 71492279 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13142153 13142153 T C 314579 single nucleotide variant NM_021980.4(OPTN):c.-122C>A 552494483 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13100192 13100192 C A 314579 single nucleotide variant NM_021980.4(OPTN):c.-122C>A 552494483 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13142192 13142192 C A 314580 single nucleotide variant NM_021980.4(OPTN):c.-63G>A 11548142 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13100251 13100251 G A 314580 single nucleotide variant NM_021980.4(OPTN):c.-63G>A 11548142 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13142251 13142251 G A 314581 single nucleotide variant NM_021980.4(OPTN):c.444G>A (p.Val148=) 780011442 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13112527 13112527 G A 314581 single nucleotide variant NM_021980.4(OPTN):c.444G>A (p.Val148=) 780011442 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13154527 13154527 G A 314594 single nucleotide variant NM_021980.4(OPTN):c.961A>T (p.Ser321Cys) 886046820 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13124073 13124073 A T 314594 single nucleotide variant NM_021980.4(OPTN):c.961A>T (p.Ser321Cys) 886046820 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13166073 13166073 A T 314616 single nucleotide variant NM_021980.4(OPTN):c.1243-13G>A 374144660 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13127732 13127732 G A 314616 single nucleotide variant NM_021980.4(OPTN):c.1243-13G>A 374144660 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13169732 13169732 G A 314619 deletion NM_021980.4(OPTN):c.1532+16_1532+17delAG 886046822 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13132213 13132214 AG - 314619 deletion NM_021980.4(OPTN):c.1532+16_1532+17delAG 886046822 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13174213 13174214 AG - 314621 single nucleotide variant NM_021980.4(OPTN):c.*152G>T 886046823 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13179018 13179018 G T 314621 single nucleotide variant NM_021980.4(OPTN):c.*152G>T 886046823 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13137018 13137018 G T 314622 single nucleotide variant NM_021980.4(OPTN):c.*306G>A 538280633 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13137172 13137172 G A 314622 single nucleotide variant NM_021980.4(OPTN):c.*306G>A 538280633 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13179172 13179172 G A 314630 single nucleotide variant NM_021980.4(OPTN):c.*461G>A 541250740 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13137327 13137327 G A 314630 single nucleotide variant NM_021980.4(OPTN):c.*461G>A 541250740 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13179327 13179327 G A 320644 single nucleotide variant NM_021980.4(OPTN):c.-232G>T 886046816 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13100082 13100082 G T 320644 single nucleotide variant NM_021980.4(OPTN):c.-232G>T 886046816 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13142082 13142082 G T 320645 single nucleotide variant NM_021980.4(OPTN):c.402C>A (p.Ala134=) 113955718 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13112485 13112485 C A 320645 single nucleotide variant NM_021980.4(OPTN):c.402C>A (p.Ala134=) 113955718 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13154485 13154485 C A 320651 single nucleotide variant NM_021980.4(OPTN):c.573A>G (p.Ser191=) 773095721 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13116287 13116287 A G 320651 single nucleotide variant NM_021980.4(OPTN):c.573A>G (p.Ser191=) 773095721 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13158287 13158287 A G 320654 single nucleotide variant NM_021980.4(OPTN):c.*218G>C 886046824 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13179084 13179084 G C 320654 single nucleotide variant NM_021980.4(OPTN):c.*218G>C 886046824 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13137084 13137084 G C 320655 single nucleotide variant NM_021980.4(OPTN):c.*386C>A 745564491 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13137252 13137252 C A 320655 single nucleotide variant NM_021980.4(OPTN):c.*386C>A 745564491 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13179252 13179252 C A 320656 single nucleotide variant NM_021980.4(OPTN):c.*413G>A 886046825 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13137279 13137279 G A 320656 single nucleotide variant NM_021980.4(OPTN):c.*413G>A 886046825 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13179279 13179279 G A 320657 single nucleotide variant NM_021980.4(OPTN):c.*562T>G 148646641 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13137428 13137428 T G 320657 single nucleotide variant NM_021980.4(OPTN):c.*562T>G 148646641 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13179428 13179428 T G 320658 single nucleotide variant NM_021980.4(OPTN):c.*1063C>A 530046832 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13137929 13137929 C A 320658 single nucleotide variant NM_021980.4(OPTN):c.*1063C>A 530046832 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13179929 13179929 C A 320662 single nucleotide variant NM_021980.4(OPTN):c.*1251C>G 542617940 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13138117 13138117 C G 320662 single nucleotide variant NM_021980.4(OPTN):c.*1251C>G 542617940 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13180117 13180117 C G 321180 single nucleotide variant NM_021980.4(OPTN):c.-98C>A 886046818 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13100216 13100216 C A 321180 single nucleotide variant NM_021980.4(OPTN):c.-98C>A 886046818 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13142216 13142216 C A 321188 single nucleotide variant NM_021980.4(OPTN):c.247C>T (p.Arg83Cys) 756622651 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13110354 13110354 C T 321188 single nucleotide variant NM_021980.4(OPTN):c.247C>T (p.Arg83Cys) 756622651 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13152354 13152354 C T 321189 single nucleotide variant NM_021980.4(OPTN):c.425A>C (p.Gln142Pro) 757411888 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13112508 13112508 A C 321189 single nucleotide variant NM_021980.4(OPTN):c.425A>C (p.Gln142Pro) 757411888 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13154508 13154508 A C 321201 single nucleotide variant NM_021980.4(OPTN):c.441G>A (p.Val147=) 886046819 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13112524 13112524 G A 321201 single nucleotide variant NM_021980.4(OPTN):c.441G>A (p.Val147=) 886046819 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13154524 13154524 G A 321211 single nucleotide variant NM_021980.4(OPTN):c.627-10T>C 80327830 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13118878 13118878 T C 321211 single nucleotide variant NM_021980.4(OPTN):c.627-10T>C 80327830 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13160878 13160878 T C 321213 single nucleotide variant NM_021980.4(OPTN):c.963C>T (p.Ser321=) 150381274 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13124075 13124075 C T 321213 single nucleotide variant NM_021980.4(OPTN):c.963C>T (p.Ser321=) 150381274 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13166075 13166075 C T 321216 single nucleotide variant NM_021980.4(OPTN):c.1569G>A (p.Ala523=) 771316696 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13175538 13175538 G A 321216 single nucleotide variant NM_021980.4(OPTN):c.1569G>A (p.Ala523=) 771316696 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13133538 13133538 G A 321224 single nucleotide variant NM_021980.4(OPTN):c.1612+10G>A 191671333 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13175591 13175591 G A 321224 single nucleotide variant NM_021980.4(OPTN):c.1612+10G>A 191671333 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13133591 13133591 G A 321225 single nucleotide variant NM_021980.4(OPTN):c.*938C>G 886046826 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13137804 13137804 C G 321225 single nucleotide variant NM_021980.4(OPTN):c.*938C>G 886046826 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13179804 13179804 C G 321235 single nucleotide variant NM_021980.4(OPTN):c.*1089G>A 758812707 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13137955 13137955 G A 321235 single nucleotide variant NM_021980.4(OPTN):c.*1089G>A 758812707 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13179955 13179955 G A 321239 single nucleotide variant NM_021980.4(OPTN):c.*1385T>C 546352206 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13138251 13138251 T C 321239 single nucleotide variant NM_021980.4(OPTN):c.*1385T>C 546352206 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13180251 13180251 T C 353123 single nucleotide variant NM_001008211.1(OPTN):c.-454C>T 570587258 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13142081 13142081 C T 353123 single nucleotide variant NM_001008211.1(OPTN):c.-454C>T 570587258 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13100081 13100081 C T 353124 single nucleotide variant NM_001008211.1(OPTN):c.*1421T>G 12415716 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13180287 13180287 T G 353124 single nucleotide variant NM_001008211.1(OPTN):c.*1421T>G 12415716 MedGen:CN239196;MedGen:C0339573,OMIM:137760,SNOMED CT:C0339573 10 13138287 13138287 T 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 10 13145649 rs11258186 A G rs11258186 3.49E-04 Multiple complex diseases HPOID:0000118 NA A intron GWASdb_trait 10 13152666 rs7921853 T G rs7921853 4.78E-05 Paget's disease HPOID:0000924 DOID:5408 T intron GWASdb_trait 10 13155726 rs1561570 T C rs1561570 6.00E-13 Paget's disease HPOID:0000924 DOID:5408 T intron GWASdb_trait 10 13155726 rs1561570 T C rs1561570 4.00E-38 Paget's disease HPOID:0000924 DOID:5408 T intron GWASdb_trait 10 13169374 rs825411 A G rs825411 7.82E-08 Paget's disease HPOID:0000924 DOID:5408 T,C intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000123240.16 OPTN 602432