Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 19992 single nucleotide variant DNAI2, IVS11DS, G-A, +1 -1 MedGen:C2676235,OMIM:612444 na -1 -1 na na 19993 single nucleotide variant NM_023036.4(DNAI2):c.346-3T>G (p.Ile116GlyfsTer54) 397515358 MedGen:C2676235,OMIM:612444;MedGen:C0022521,OMIM:244400,Orphanet:ORPHA98861,SNOMED CT:C0022521 17 72283113 72283113 T G 19993 single nucleotide variant NM_023036.4(DNAI2):c.346-3T>G (p.Ile116GlyfsTer54) 397515358 MedGen:C2676235,OMIM:612444;MedGen:C0022521,OMIM:244400,Orphanet:ORPHA98861,SNOMED CT:C0022521 17 74286974 74286974 T G 19994 single nucleotide variant NM_023036.4(DNAI2):c.787C>T (p.Arg263Ter) 137852998 MedGen:C2676235,OMIM:612444 17 72295919 72295919 C T 19994 single nucleotide variant NM_023036.4(DNAI2):c.787C>T (p.Arg263Ter) 137852998 MedGen:C2676235,OMIM:612444 17 74299780 74299780 C T 48252 single nucleotide variant DNAI2, TRP453TER -1 MedGen:C2676235,OMIM:612444 na -1 -1 na na 76629 single nucleotide variant NM_023036.4(DNAI2):c.1494+1G>C (p.Val450_Ser498del) 397515565 MedGen:C0022521,OMIM:244400,Orphanet:ORPHA98861,SNOMED CT:C0022521 17 72306303 72306303 G C 76629 single nucleotide variant NM_023036.4(DNAI2):c.1494+1G>C (p.Val450_Ser498del) 397515565 MedGen:C0022521,OMIM:244400,Orphanet:ORPHA98861,SNOMED CT:C0022521 17 74310164 74310164 G C 176496 single nucleotide variant NM_023036.4(DNAI2):c.865-5A>G 8076337 MedGen:C0008780,Orphanet:ORPHA244;MedGen:CN169374 17 72297180 72297180 A G 176496 single nucleotide variant NM_023036.4(DNAI2):c.865-5A>G 8076337 MedGen:C0008780,Orphanet:ORPHA244;MedGen:CN169374 17 74301041 74301041 A G 176497 single nucleotide variant NM_023036.4(DNAI2):c.1347+7C>T 2290955 MedGen:C0008780,Orphanet:ORPHA244;MedGen:CN169374 17 72305534 72305534 C T 176497 single nucleotide variant NM_023036.4(DNAI2):c.1347+7C>T 2290955 MedGen:C0008780,Orphanet:ORPHA244;MedGen:CN169374 17 74309395 74309395 C T 176498 single nucleotide variant NM_023036.4(DNAI2):c.1672G>A (p.Ala558Thr) 1979370 MedGen:C0008780,Orphanet:ORPHA244;MedGen:CN169374 17 72308319 72308319 G A 176498 single nucleotide variant NM_023036.4(DNAI2):c.1672G>A (p.Ala558Thr) 1979370 MedGen:C0008780,Orphanet:ORPHA244;MedGen:CN169374 17 74312180 74312180 G A 176633 single nucleotide variant NM_023036.4(DNAI2):c.834C>T (p.Thr278=) 34159194 MedGen:C0008780,Orphanet:ORPHA244;MedGen:CN169374 17 72295966 72295966 C T 176633 single nucleotide variant NM_023036.4(DNAI2):c.834C>T (p.Thr278=) 34159194 MedGen:C0008780,Orphanet:ORPHA244;MedGen:CN169374 17 74299827 74299827 C T 176634 single nucleotide variant NM_023036.4(DNAI2):c.1062A>G (p.Glu354=) 8073660 MedGen:C0008780,Orphanet:ORPHA244;MedGen:CN169374 17 72301432 72301432 A G 176634 single nucleotide variant NM_023036.4(DNAI2):c.1062A>G (p.Glu354=) 8073660 MedGen:C0008780,Orphanet:ORPHA244;MedGen:CN169374 17 74305293 74305293 A G 176635 single nucleotide variant NM_023036.4(DNAI2):c.1644C>A (p.Ala548=) 9908476 MedGen:C0008780,Orphanet:ORPHA244;MedGen:CN169374 17 72308291 72308291 C A 176635 single nucleotide variant NM_023036.4(DNAI2):c.1644C>A (p.Ala548=) 9908476 MedGen:C0008780,Orphanet:ORPHA244;MedGen:CN169374 17 74312152 74312152 C A 191090 single nucleotide variant NM_023036.4(DNAI2):c.1408G>A (p.Gly470Ser) 115299472 MedGen:C0008780,Orphanet:ORPHA244;MedGen:CN169374 17 72306216 72306216 G A 191090 single nucleotide variant NM_023036.4(DNAI2):c.1408G>A (p.Gly470Ser) 115299472 MedGen:C0008780,Orphanet:ORPHA244;MedGen:CN169374 17 74310077 74310077 G A 191281 single nucleotide variant NM_023036.4(DNAI2):c.1615G>A (p.Val539Ile) 199817659 MedGen:CN169374 17 72308262 72308262 G A 191281 single nucleotide variant NM_023036.4(DNAI2):c.1615G>A (p.Val539Ile) 199817659 MedGen:CN169374 17 74312123 74312123 G A 191282 single nucleotide variant NM_023036.4(DNAI2):c.1619A>T (p.Asp540Val) 794727074 MedGen:CN169374 17 72308266 72308266 A T 191282 single nucleotide variant NM_023036.4(DNAI2):c.1619A>T (p.Asp540Val) 794727074 MedGen:CN169374 17 74312127 74312127 A T 196328 single nucleotide variant NM_023036.4(DNAI2):c.1188G>A (p.Arg396=) 139935771 MedGen:CN169374 17 72301558 72301558 G A 196328 single nucleotide variant NM_023036.4(DNAI2):c.1188G>A (p.Arg396=) 139935771 MedGen:CN169374 17 74305419 74305419 G A 213383 single nucleotide variant NM_023036.4(DNAI2):c.522C>T (p.Gly174=) 557724360 MedGen:C0008780,Orphanet:ORPHA244 17 72285787 72285787 C T 213383 single nucleotide variant NM_023036.4(DNAI2):c.522C>T (p.Gly174=) 557724360 MedGen:C0008780,Orphanet:ORPHA244 17 74289648 74289648 C T 230778 single nucleotide variant NM_023036.4(DNAI2):c.234G>A (p.Glu78=) 35985071 MedGen:C0008780,Orphanet:ORPHA244;MedGen:CN169374 17 72281229 72281229 G A 230778 single nucleotide variant NM_023036.4(DNAI2):c.234G>A (p.Glu78=) 35985071 MedGen:C0008780,Orphanet:ORPHA244;MedGen:CN169374 17 74285090 74285090 G A 230779 single nucleotide variant NM_023036.4(DNAI2):c.571C>T (p.Pro191Ser) 201457010 MedGen:CN169374 17 74289697 74289697 C T 230779 single nucleotide variant NM_023036.4(DNAI2):c.571C>T (p.Pro191Ser) 201457010 MedGen:CN169374 17 72285836 72285836 C T 230780 single nucleotide variant NM_023036.4(DNAI2):c.590A>T (p.Asp197Val) 35636875 MedGen:C0008780,Orphanet:ORPHA244;MedGen:CN169374 17 74289716 74289716 A T 230780 single nucleotide variant NM_023036.4(DNAI2):c.590A>T (p.Asp197Val) 35636875 MedGen:C0008780,Orphanet:ORPHA244;MedGen:CN169374 17 72285855 72285855 A T 230781 single nucleotide variant NM_023036.4(DNAI2):c.1304G>A (p.Trp435Ter) 752924362 MedGen:C2676235,OMIM:612444;MedGen:C0008780,Orphanet:ORPHA244 17 74309345 74309345 G A 230781 single nucleotide variant NM_023036.4(DNAI2):c.1304G>A (p.Trp435Ter) 752924362 MedGen:C2676235,OMIM:612444;MedGen:C0008780,Orphanet:ORPHA244 17 72305484 72305484 G A 230782 single nucleotide variant NM_023036.4(DNAI2):c.1483G>A (p.Val495Ile) 28725418 MedGen:C0008780,Orphanet:ORPHA244;MedGen:CN169374 17 74310152 74310152 G A 230782 single nucleotide variant NM_023036.4(DNAI2):c.1483G>A (p.Val495Ile) 28725418 MedGen:C0008780,Orphanet:ORPHA244;MedGen:CN169374 17 72306291 72306291 G A 230783 single nucleotide variant NM_023036.4(DNAI2):c.*13G>A 751438337 MedGen:CN169374 17 74314229 74314229 G A 230783 single nucleotide variant NM_023036.4(DNAI2):c.*13G>A 751438337 MedGen:CN169374 17 72310368 72310368 G A 242974 single nucleotide variant NM_023036.4(DNAI2):c.1644C>T (p.Ala548=) 9908476 MedGen:C0008780,Orphanet:ORPHA244 17 72308291 72308291 C T 242965 single nucleotide variant NM_023036.4(DNAI2):c.124G>A (p.Val42Met) 151176313 MedGen:C0008780,Orphanet:ORPHA244;MedGen:CN169374 17 72278080 72278080 G A 242965 single nucleotide variant NM_023036.4(DNAI2):c.124G>A (p.Val42Met) 151176313 MedGen:C0008780,Orphanet:ORPHA244;MedGen:CN169374 17 74281941 74281941 G A 242966 single nucleotide variant NM_023036.4(DNAI2):c.759G>A (p.Ala253=) 142656395 MedGen:C0008780,Orphanet:ORPHA244;MedGen:CN169374 17 74299752 74299752 G A 242966 single nucleotide variant NM_023036.4(DNAI2):c.759G>A (p.Ala253=) 142656395 MedGen:C0008780,Orphanet:ORPHA244;MedGen:CN169374 17 72295891 72295891 G A 242967 single nucleotide variant NM_023036.4(DNAI2):c.854C>T (p.Thr285Met) 141079076 MedGen:C0008780,Orphanet:ORPHA244 17 74299847 74299847 C T 242967 single nucleotide variant NM_023036.4(DNAI2):c.854C>T (p.Thr285Met) 141079076 MedGen:C0008780,Orphanet:ORPHA244 17 72295986 72295986 C T 242968 single nucleotide variant NM_023036.4(DNAI2):c.1165C>G (p.Arg389Gly) 375896715 MedGen:C0008780,Orphanet:ORPHA244 17 74305396 74305396 C G 242968 single nucleotide variant NM_023036.4(DNAI2):c.1165C>G (p.Arg389Gly) 375896715 MedGen:C0008780,Orphanet:ORPHA244 17 72301535 72301535 C G 242969 single nucleotide variant NM_023036.4(DNAI2):c.1318G>C (p.Glu440Gln) 182986650 MedGen:C0008780,Orphanet:ORPHA244 17 74309359 74309359 G C 242969 single nucleotide variant NM_023036.4(DNAI2):c.1318G>C (p.Glu440Gln) 182986650 MedGen:C0008780,Orphanet:ORPHA244 17 72305498 72305498 G C 242970 single nucleotide variant NM_023036.4(DNAI2):c.1420G>A (p.Gly474Arg) 878855078 MedGen:C0008780,Orphanet:ORPHA244 17 74310089 74310089 G A 242970 single nucleotide variant NM_023036.4(DNAI2):c.1420G>A (p.Gly474Arg) 878855078 MedGen:C0008780,Orphanet:ORPHA244 17 72306228 72306228 G A 242971 single nucleotide variant NM_023036.4(DNAI2):c.1431C>G (p.Thr477=) 144035254 MedGen:C0008780,Orphanet:ORPHA244;MedGen:CN169374 17 74310100 74310100 C G 242971 single nucleotide variant NM_023036.4(DNAI2):c.1431C>G (p.Thr477=) 144035254 MedGen:C0008780,Orphanet:ORPHA244;MedGen:CN169374 17 72306239 72306239 C G 242972 single nucleotide variant NM_023036.4(DNAI2):c.1574C>T (p.Ala525Val) 145602856 MedGen:C0008780,Orphanet:ORPHA244 17 74312082 74312082 C T 242972 single nucleotide variant NM_023036.4(DNAI2):c.1574C>T (p.Ala525Val) 145602856 MedGen:C0008780,Orphanet:ORPHA244 17 72308221 72308221 C T 242973 single nucleotide variant NM_023036.4(DNAI2):c.1600G>A (p.Asp534Asn) 538543314 MedGen:C0008780,Orphanet:ORPHA244 17 74312108 74312108 G A 242973 single nucleotide variant NM_023036.4(DNAI2):c.1600G>A (p.Asp534Asn) 538543314 MedGen:C0008780,Orphanet:ORPHA244 17 72308247 72308247 G A 242974 single nucleotide variant NM_023036.4(DNAI2):c.1644C>T (p.Ala548=) 9908476 MedGen:C0008780,Orphanet:ORPHA244 17 74312152 74312152 C T 256373 single nucleotide variant NM_023036.4(DNAI2):c.43G>A (p.Gly15Arg) 758997612 MedGen:CN169374 17 72277999 72277999 G A 256373 single nucleotide variant NM_023036.4(DNAI2):c.43G>A (p.Gly15Arg) 758997612 MedGen:CN169374 17 74281860 74281860 G A 256374 single nucleotide variant NM_023036.4(DNAI2):c.45G>A (p.Gly15=) 751121542 MedGen:CN169374 17 72278001 72278001 G A 256374 single nucleotide variant NM_023036.4(DNAI2):c.45G>A (p.Gly15=) 751121542 MedGen:CN169374 17 74281862 74281862 G A 256375 single nucleotide variant NM_023036.4(DNAI2):c.258C>T (p.Asn86=) 886038678 MedGen:CN169374 17 72281253 72281253 C T 256375 single nucleotide variant NM_023036.4(DNAI2):c.258C>T (p.Asn86=) 886038678 MedGen:CN169374 17 74285114 74285114 C T 256376 single nucleotide variant NM_023036.4(DNAI2):c.345+27A>G 6501706 MedGen:CN169374 17 72281367 72281367 A G 256376 single nucleotide variant NM_023036.4(DNAI2):c.345+27A>G 6501706 MedGen:CN169374 17 74285228 74285228 A G 256377 single nucleotide variant NM_023036.4(DNAI2):c.467+10T>C 377310209 MedGen:CN169374 17 72283247 72283247 T C 256377 single nucleotide variant NM_023036.4(DNAI2):c.467+10T>C 377310209 MedGen:CN169374 17 74287108 74287108 T C 256378 single nucleotide variant NM_023036.4(DNAI2):c.468-28C>T 62065706 MedGen:CN169374 17 72285705 72285705 C T 256378 single nucleotide variant NM_023036.4(DNAI2):c.468-28C>T 62065706 MedGen:CN169374 17 74289566 74289566 C T 256379 single nucleotide variant NM_023036.4(DNAI2):c.610+31G>A 62065707 MedGen:CN169374 17 72285906 72285906 G A 256379 single nucleotide variant NM_023036.4(DNAI2):c.610+31G>A 62065707 MedGen:CN169374 17 74289767 74289767 G A 256380 single nucleotide variant NM_023036.4(DNAI2):c.725-27C>T 72848284 MedGen:CN169374 17 72295830 72295830 C T 256380 single nucleotide variant NM_023036.4(DNAI2):c.725-27C>T 72848284 MedGen:CN169374 17 74299691 74299691 C T 256381 single nucleotide variant NM_023036.4(DNAI2):c.747C>T (p.Gly249=) 148488355 MedGen:C0008780,Orphanet:ORPHA244;MedGen:CN169374 17 72295879 72295879 C T 256381 single nucleotide variant NM_023036.4(DNAI2):c.747C>T (p.Gly249=) 148488355 MedGen:C0008780,Orphanet:ORPHA244;MedGen:CN169374 17 74299740 74299740 C T 256382 single nucleotide variant NM_023036.4(DNAI2):c.754G>A (p.Val252Met) 140326154 MedGen:CN169374 17 72295886 72295886 G A 256382 single nucleotide variant NM_023036.4(DNAI2):c.754G>A (p.Val252Met) 140326154 MedGen:CN169374 17 74299747 74299747 G A 256383 single nucleotide variant NM_023036.4(DNAI2):c.865-18C>T 117075898 MedGen:CN169374 17 72297167 72297167 C T 256383 single nucleotide variant NM_023036.4(DNAI2):c.865-18C>T 117075898 MedGen:CN169374 17 74301028 74301028 C T 256384 single nucleotide variant NM_023036.4(DNAI2):c.933G>A (p.Lys311=) 570168701 MedGen:C0008780,Orphanet:ORPHA244;MedGen:CN169374 17 72297253 72297253 G A 256384 single nucleotide variant NM_023036.4(DNAI2):c.933G>A (p.Lys311=) 570168701 MedGen:C0008780,Orphanet:ORPHA244;MedGen:CN169374 17 74301114 74301114 G A 256385 single nucleotide variant NM_023036.4(DNAI2):c.981T>C (p.Ser327=) 886038679 MedGen:CN169374 17 72297301 72297301 T C 256385 single nucleotide variant NM_023036.4(DNAI2):c.981T>C (p.Ser327=) 886038679 MedGen:CN169374 17 74301162 74301162 T C 256386 single nucleotide variant NM_023036.4(DNAI2):c.1011C>T (p.Thr337=) 768490008 MedGen:CN169374 17 72301381 72301381 C T 256386 single nucleotide variant NM_023036.4(DNAI2):c.1011C>T (p.Thr337=) 768490008 MedGen:CN169374 17 74305242 74305242 C T 256387 single nucleotide variant NM_023036.4(DNAI2):c.1053G>A (p.Thr351=) 34392071 MedGen:C0008780,Orphanet:ORPHA244;MedGen:CN169374 17 72301423 72301423 G A 256387 single nucleotide variant NM_023036.4(DNAI2):c.1053G>A (p.Thr351=) 34392071 MedGen:C0008780,Orphanet:ORPHA244;MedGen:CN169374 17 74305284 74305284 G A 256388 single nucleotide variant NM_023036.4(DNAI2):c.1131G>A (p.Pro377=) 59499600 MedGen:C0008780,Orphanet:ORPHA244;MedGen:CN169374 17 72301501 72301501 G A 256388 single nucleotide variant NM_023036.4(DNAI2):c.1131G>A (p.Pro377=) 59499600 MedGen:C0008780,Orphanet:ORPHA244;MedGen:CN169374 17 74305362 74305362 G A 256389 deletion NM_023036.4(DNAI2):c.1348-34_1348-33delTC 35732837 MedGen:CN169374 17 72306122 72306123 TC - 256389 deletion NM_023036.4(DNAI2):c.1348-34_1348-33delTC 35732837 MedGen:CN169374 17 74309983 74309984 TC - 256390 single nucleotide variant NM_023036.4(DNAI2):c.1380G>T (p.Val460=) 148947094 MedGen:CN169374 17 72306188 72306188 G T 256390 single nucleotide variant NM_023036.4(DNAI2):c.1380G>T (p.Val460=) 148947094 MedGen:CN169374 17 74310049 74310049 G T 256391 single nucleotide variant NM_023036.4(DNAI2):c.1446G>T (p.Ser482=) 368217836 MedGen:CN169374 17 72306254 72306254 G T 256391 single nucleotide variant NM_023036.4(DNAI2):c.1446G>T (p.Ser482=) 368217836 MedGen:CN169374 17 74310115 74310115 G T 256392 single nucleotide variant NM_023036.4(DNAI2):c.1572G>A (p.Lys524=) 2279122 MedGen:C0008780,Orphanet:ORPHA244;MedGen:CN169374 17 72308219 72308219 G A 256392 single nucleotide variant NM_023036.4(DNAI2):c.1572G>A (p.Lys524=) 2279122 MedGen:C0008780,Orphanet:ORPHA244;MedGen:CN169374 17 74312080 74312080 G A 256393 single nucleotide variant NM_023036.4(DNAI2):c.1715C>T (p.Pro572Leu) 151241589 MedGen:CN169374 17 72308362 72308362 C T 256393 single nucleotide variant NM_023036.4(DNAI2):c.1715C>T (p.Pro572Leu) 151241589 MedGen:CN169374 17 74312223 74312223 C T 256394 single nucleotide variant NM_023036.4(DNAI2):c.1722+34G>A 4239008 MedGen:CN169374 17 72308403 72308403 G A 256394 single nucleotide variant NM_023036.4(DNAI2):c.1722+34G>A 4239008 MedGen:CN169374 17 74312264 74312264 G A 256395 single nucleotide variant NM_023036.4(DNAI2):c.1722+41C>T 4239009 MedGen:CN169374 17 72308410 72308410 C T 256395 single nucleotide variant NM_023036.4(DNAI2):c.1722+41C>T 4239009 MedGen:CN169374 17 74312271 74312271 C T 256396 single nucleotide variant NM_023036.4(DNAI2):c.*18C>T 369270232 MedGen:CN169374 17 72310373 72310373 C T 256396 single nucleotide variant NM_023036.4(DNAI2):c.*18C>T 369270232 MedGen:CN169374 17 74314234 74314234 C T 256397 single nucleotide variant NM_023036.4(DNAI2):c.*22G>A 139420980 MedGen:CN169374 17 72310377 72310377 G A 256397 single nucleotide variant NM_023036.4(DNAI2):c.*22G>A 139420980 MedGen:CN169374 17 74314238 74314238 G A 272494 deletion NM_023036.4(DNAI2):c.1697delA (p.Asp566Alafs) 764971993 MedGen:C2676235,OMIM:612444 17 72308344 72308344 A - 272494 deletion NM_023036.4(DNAI2):c.1697delA (p.Asp566Alafs) 764971993 MedGen:C2676235,OMIM:612444 17 74312205 74312205 A - 272773 single nucleotide variant NM_023036.4(DNAI2):c.253G>C (p.Val85Leu) 749468635 MedGen:CN169374 17 72281248 72281248 G C 272773 single nucleotide variant NM_023036.4(DNAI2):c.253G>C (p.Val85Leu) 749468635 MedGen:CN169374 17 74285109 74285109 G C 329754 single nucleotide variant NM_023036.4(DNAI2):c.-21C>T 753355539 MedGen:C0008780,Orphanet:ORPHA244 17 74274336 74274336 C T 329754 single nucleotide variant NM_023036.4(DNAI2):c.-21C>T 753355539 MedGen:C0008780,Orphanet:ORPHA244 17 72270475 72270475 C T 329755 single nucleotide variant NM_023036.4(DNAI2):c.-4C>T 757989808 MedGen:C0008780,Orphanet:ORPHA244 17 74281814 74281814 C T 329755 single nucleotide variant NM_023036.4(DNAI2):c.-4C>T 757989808 MedGen:C0008780,Orphanet:ORPHA244 17 72277953 72277953 C T 329757 single nucleotide variant NM_023036.4(DNAI2):c.468-4G>T 146462823 MedGen:C0008780,Orphanet:ORPHA244 17 74289590 74289590 G T 329757 single nucleotide variant NM_023036.4(DNAI2):c.468-4G>T 146462823 MedGen:C0008780,Orphanet:ORPHA244 17 72285729 72285729 G T 329758 single nucleotide variant NM_023036.4(DNAI2):c.611-3T>C 886053377 MedGen:C0008780,Orphanet:ORPHA244 17 74291017 74291017 T C 329758 single nucleotide variant NM_023036.4(DNAI2):c.611-3T>C 886053377 MedGen:C0008780,Orphanet:ORPHA244 17 72287156 72287156 T C 329763 single nucleotide variant NM_023036.4(DNAI2):c.1000A>G (p.Met334Val) 779742315 MedGen:C0008780,Orphanet:ORPHA244 17 74305231 74305231 A G 329763 single nucleotide variant NM_023036.4(DNAI2):c.1000A>G (p.Met334Val) 779742315 MedGen:C0008780,Orphanet:ORPHA244 17 72301370 72301370 A G 329764 single nucleotide variant NM_023036.4(DNAI2):c.1552C>T (p.Arg518Trp) 377582813 MedGen:C0008780,Orphanet:ORPHA244 17 74312060 74312060 C T 329764 single nucleotide variant NM_023036.4(DNAI2):c.1552C>T (p.Arg518Trp) 377582813 MedGen:C0008780,Orphanet:ORPHA244 17 72308199 72308199 C T 329765 single nucleotide variant NM_023036.4(DNAI2):c.1660G>A (p.Asp554Asn) 117932646 MedGen:C0008780,Orphanet:ORPHA244 17 74312168 74312168 G A 329765 single nucleotide variant NM_023036.4(DNAI2):c.1660G>A (p.Asp554Asn) 117932646 MedGen:C0008780,Orphanet:ORPHA244 17 72308307 72308307 G A 329766 single nucleotide variant NM_023036.4(DNAI2):c.*55+6G>A 118104009 MedGen:C0008780,Orphanet:ORPHA244 17 74314277 74314277 G A 329766 single nucleotide variant NM_023036.4(DNAI2):c.*55+6G>A 118104009 MedGen:C0008780,Orphanet:ORPHA244 17 72310416 72310416 G A 340046 single nucleotide variant NM_023036.4(DNAI2):c.-54A>G 1877687 MedGen:C0008780,Orphanet:ORPHA244 17 74274303 74274303 A G 340046 single nucleotide variant NM_023036.4(DNAI2):c.-54A>G 1877687 MedGen:C0008780,Orphanet:ORPHA244 17 72270442 72270442 A G 340056 single nucleotide variant NM_023036.4(DNAI2):c.325G>A (p.Ala109Thr) 192790912 MedGen:C0008780,Orphanet:ORPHA244 17 74285181 74285181 G A 340056 single nucleotide variant NM_023036.4(DNAI2):c.325G>A (p.Ala109Thr) 192790912 MedGen:C0008780,Orphanet:ORPHA244 17 72281320 72281320 G A 340057 single nucleotide variant NM_023036.4(DNAI2):c.828G>A (p.Thr276=) 149918986 MedGen:C0008780,Orphanet:ORPHA244 17 74299821 74299821 G A 340057 single nucleotide variant NM_023036.4(DNAI2):c.828G>A (p.Thr276=) 149918986 MedGen:C0008780,Orphanet:ORPHA244 17 72295960 72295960 G A 340060 single nucleotide variant NM_023036.4(DNAI2):c.1165C>T (p.Arg389Cys) 375896715 MedGen:C0008780,Orphanet:ORPHA244 17 74305396 74305396 C T 340060 single nucleotide variant NM_023036.4(DNAI2):c.1165C>T (p.Arg389Cys) 375896715 MedGen:C0008780,Orphanet:ORPHA244 17 72301535 72301535 C T 340061 single nucleotide variant NM_023036.4(DNAI2):c.1489T>A (p.Ser497Thr) 776297555 MedGen:C0008780,Orphanet:ORPHA244 17 74310158 74310158 T A 340061 single nucleotide variant NM_023036.4(DNAI2):c.1489T>A (p.Ser497Thr) 776297555 MedGen:C0008780,Orphanet:ORPHA244 17 72306297 72306297 T A 340068 single nucleotide variant NM_023036.4(DNAI2):c.*19G>A 757199467 MedGen:C0008780,Orphanet:ORPHA244 17 74314235 74314235 G A 340068 single nucleotide variant NM_023036.4(DNAI2):c.*19G>A 757199467 MedGen:C0008780,Orphanet:ORPHA244 17 72310374 72310374 G A 345743 deletion NM_023036.4(DNAI2):c.-72_-63delAGCCGCGACC 5822035 MedGen:C0008780,Orphanet:ORPHA244 17 74274285 74274294 AGCCGCGACC - 345743 deletion NM_023036.4(DNAI2):c.-72_-63delAGCCGCGACC 5822035 MedGen:C0008780,Orphanet:ORPHA244 17 72270424 72270433 AGCCGCGACC - 345746 single nucleotide variant NM_023036.4(DNAI2):c.-21C>A 753355539 MedGen:C0008780,Orphanet:ORPHA244 17 74274336 74274336 C A 345746 single nucleotide variant NM_023036.4(DNAI2):c.-21C>A 753355539 MedGen:C0008780,Orphanet:ORPHA244 17 72270475 72270475 C A 345756 single nucleotide variant NM_023036.4(DNAI2):c.134A>G (p.Asn45Ser) 148073122 MedGen:C0008780,Orphanet:ORPHA244 17 74281951 74281951 A G 345756 single nucleotide variant NM_023036.4(DNAI2):c.134A>G (p.Asn45Ser) 148073122 MedGen:C0008780,Orphanet:ORPHA244 17 72278090 72278090 A G 345758 single nucleotide variant NM_023036.4(DNAI2):c.318C>T (p.Tyr106=) 764812763 MedGen:C0008780,Orphanet:ORPHA244 17 74285174 74285174 C T 345758 single nucleotide variant NM_023036.4(DNAI2):c.318C>T (p.Tyr106=) 764812763 MedGen:C0008780,Orphanet:ORPHA244 17 72281313 72281313 C T 345759 single nucleotide variant NM_023036.4(DNAI2):c.565C>T (p.Arg189Trp) 138885031 MedGen:C0008780,Orphanet:ORPHA244 17 74289691 74289691 C T 345759 single nucleotide variant NM_023036.4(DNAI2):c.565C>T (p.Arg189Trp) 138885031 MedGen:C0008780,Orphanet:ORPHA244 17 72285830 72285830 C T 345762 single nucleotide variant NM_023036.4(DNAI2):c.610+12C>T 374447879 MedGen:C0008780,Orphanet:ORPHA244 17 74289748 74289748 C T 345762 single nucleotide variant NM_023036.4(DNAI2):c.610+12C>T 374447879 MedGen:C0008780,Orphanet:ORPHA244 17 72285887 72285887 C T 345763 single nucleotide variant NM_023036.4(DNAI2):c.864+4C>T 773061334 MedGen:C0008780,Orphanet:ORPHA244 17 74299861 74299861 C T 345763 single nucleotide variant NM_023036.4(DNAI2):c.864+4C>T 773061334 MedGen:C0008780,Orphanet:ORPHA244 17 72296000 72296000 C T 345769 single nucleotide variant NM_023036.4(DNAI2):c.1533G>T (p.Glu511Asp) 150710001 MedGen:C0008780,Orphanet:ORPHA244 17 74312041 74312041 G T 345769 single nucleotide variant NM_023036.4(DNAI2):c.1533G>T (p.Glu511Asp) 150710001 MedGen:C0008780,Orphanet:ORPHA244 17 72308180 72308180 G T 345773 single nucleotide variant NM_023036.4(DNAI2):c.*272C>G 886053380 MedGen:C0008780,Orphanet:ORPHA244 17 74314805 74314805 C G 345773 single nucleotide variant NM_023036.4(DNAI2):c.*272C>G 886053380 MedGen:C0008780,Orphanet:ORPHA244 17 72310944 72310944 C G 347147 single nucleotide variant NM_023036.4(DNAI2):c.-17C>A 754497256 MedGen:C0008780,Orphanet:ORPHA244 17 74274340 74274340 C A 347147 single nucleotide variant NM_023036.4(DNAI2):c.-17C>A 754497256 MedGen:C0008780,Orphanet:ORPHA244 17 72270479 72270479 C A 347148 single nucleotide variant NM_023036.4(DNAI2):c.949G>A (p.Ala317Thr) 145798624 MedGen:C0008780,Orphanet:ORPHA244 17 74301130 74301130 G A 347148 single nucleotide variant NM_023036.4(DNAI2):c.949G>A (p.Ala317Thr) 145798624 MedGen:C0008780,Orphanet:ORPHA244 17 72297269 72297269 G A 347151 single nucleotide variant NM_023036.4(DNAI2):c.1248C>T (p.Ser416=) 886053378 MedGen:C0008780,Orphanet:ORPHA244 17 74309289 74309289 C T 347151 single nucleotide variant NM_023036.4(DNAI2):c.1248C>T (p.Ser416=) 886053378 MedGen:C0008780,Orphanet:ORPHA244 17 72305428 72305428 C T 347155 single nucleotide variant NM_023036.4(DNAI2):c.1602T>C (p.Asp534=) 376541043 MedGen:C0008780,Orphanet:ORPHA244 17 74312110 74312110 T C 347155 single nucleotide variant NM_023036.4(DNAI2):c.1602T>C (p.Asp534=) 376541043 MedGen:C0008780,Orphanet:ORPHA244 17 72308249 72308249 T C 347168 deletion NM_023036.4(DNAI2):c.1743_1745delAGA (p.Glu581del) 886053379 MedGen:C0008780,Orphanet:ORPHA244 17 74314141 74314143 AGA - 347168 deletion NM_023036.4(DNAI2):c.1743_1745delAGA (p.Glu581del) 886053379 MedGen:C0008780,Orphanet:ORPHA244 17 72310280 72310282 AGA -

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 17 72271426 rs12940226 C T rs12940226 6.12E-04 Tourette syndrome HPOID:0000709 DOID:11119|DOID:10933|DOID:1094 C intron GWASdb_trait 17 72288399 rs11652975 T C rs11652975 3.15E-04 Lung function (forced expiratory volume in 1 second) HPOID:0002088 DOID:850 C intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000171595.13 DNAI2 605483