Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 20643 duplication NM_012144.3(DNAI1):c.48+2dupT (p.Ser17ValfsTer12) 397515363 MedGen:C0022521,OMIM:244400,Orphanet:ORPHA98861,SNOMED CT:C0022521;MedGen:C0008780,Orphanet:ORPHA244 9 34459053 34459053 T TT 20643 duplication NM_012144.3(DNAI1):c.48+2dupT (p.Ser17ValfsTer12) 397515363 MedGen:C0022521,OMIM:244400,Orphanet:ORPHA98861,SNOMED CT:C0022521;MedGen:C0008780,Orphanet:ORPHA244 9 34459055 34459055 T TT 20644 insertion NM_012144.3(DNAI1):c.282_283insAATA (p.Gly95Asnfs) 606231164 MedGen:C0022521,OMIM:244400,Orphanet:ORPHA98861,SNOMED CT:C0022521 9 34489343 34489344 - AATA 20644 insertion NM_012144.3(DNAI1):c.282_283insAATA (p.Gly95Asnfs) 606231164 MedGen:C0022521,OMIM:244400,Orphanet:ORPHA98861,SNOMED CT:C0022521 9 34489341 34489342 - AATA 20645 single nucleotide variant NM_012144.3(DNAI1):c.1543G>A (p.Gly515Ser) 79833450 MedGen:C0022521,OMIM:244400,Orphanet:ORPHA98861,SNOMED CT:C0022521 9 34513163 34513163 G A 20645 single nucleotide variant NM_012144.3(DNAI1):c.1543G>A (p.Gly515Ser) 79833450 MedGen:C0022521,OMIM:244400,Orphanet:ORPHA98861,SNOMED CT:C0022521 9 34513165 34513165 G A 20646 deletion NM_012144.3(DNAI1):c.1658_1669delCCAAGGTCTTCA (p.Thr553_Phe556del) 606231165 MedGen:C0022521,OMIM:244400,Orphanet:ORPHA98861,SNOMED CT:C0022521 9 34514482 34514493 CCAAGGTCTTCA - 20646 deletion NM_012144.3(DNAI1):c.1658_1669delCCAAGGTCTTCA (p.Thr553_Phe556del) 606231165 MedGen:C0022521,OMIM:244400,Orphanet:ORPHA98861,SNOMED CT:C0022521 9 34514480 34514491 CCAAGGTCTTCA - 76611 single nucleotide variant NM_012144.3(DNAI1):c.1490G>A (p.Gly497Asp) 376252276 MedGen:C0022521,OMIM:244400,Orphanet:ORPHA98861,SNOMED CT:C0022521 9 34513110 34513110 G A 76611 single nucleotide variant NM_012144.3(DNAI1):c.1490G>A (p.Gly497Asp) 376252276 MedGen:C0022521,OMIM:244400,Orphanet:ORPHA98861,SNOMED CT:C0022521 9 34513112 34513112 G A 76612 single nucleotide variant NM_012144.3(DNAI1):c.2001+1G>A (p.Ala607_Lys667del) 397515563 MedGen:C0022521,OMIM:244400,Orphanet:ORPHA98861,SNOMED CT:C0022521 9 34517466 34517466 G A 76612 single nucleotide variant NM_012144.3(DNAI1):c.2001+1G>A (p.Ala607_Lys667del) 397515563 MedGen:C0022521,OMIM:244400,Orphanet:ORPHA98861,SNOMED CT:C0022521 9 34517468 34517468 G A 101391 deletion NM_012144.3(DNAI1):c.81+5delG 200411544 MedGen:C0008780,Orphanet:ORPHA244;MedGen:CN169374 9 34483483 34483483 G - 101391 deletion NM_012144.3(DNAI1):c.81+5delG 200411544 MedGen:C0008780,Orphanet:ORPHA244;MedGen:CN169374 9 34483485 34483485 G - 174692 single nucleotide variant NM_012144.3(DNAI1):c.179C>T (p.Ala60Val) 16931549 MedGen:C0008780,Orphanet:ORPHA244;MedGen:CN169374 9 34485237 34485237 C T 174692 single nucleotide variant NM_012144.3(DNAI1):c.179C>T (p.Ala60Val) 16931549 MedGen:C0008780,Orphanet:ORPHA244;MedGen:CN169374 9 34485239 34485239 C T 174693 single nucleotide variant NM_012144.3(DNAI1):c.378A>G (p.Glu126=) 3818577 MedGen:C0008780,Orphanet:ORPHA244;MedGen:CN169374 9 34489437 34489437 A G 174693 single nucleotide variant NM_012144.3(DNAI1):c.378A>G (p.Glu126=) 3818577 MedGen:C0008780,Orphanet:ORPHA244;MedGen:CN169374 9 34489439 34489439 A G 174694 single nucleotide variant NM_012144.3(DNAI1):c.1460T>G (p.Val487Gly) 11999454 MedGen:C0008780,Orphanet:ORPHA244;MedGen:CN169374 9 34512393 34512393 T G 174694 single nucleotide variant NM_012144.3(DNAI1):c.1460T>G (p.Val487Gly) 11999454 MedGen:C0008780,Orphanet:ORPHA244;MedGen:CN169374 9 34512395 34512395 T G 174695 single nucleotide variant NM_012144.3(DNAI1):c.1611C>T (p.Asp537=) 199502666 MedGen:CN169374 9 34514433 34514433 C T 174695 single nucleotide variant NM_012144.3(DNAI1):c.1611C>T (p.Asp537=) 199502666 MedGen:CN169374 9 34514435 34514435 C T 175105 single nucleotide variant NM_012144.3(DNAI1):c.22G>T (p.Ala8Ser) 11547035 MedGen:C0008780,Orphanet:ORPHA244;MedGen:CN169374 9 34459025 34459025 G T 175105 single nucleotide variant NM_012144.3(DNAI1):c.22G>T (p.Ala8Ser) 11547035 MedGen:C0008780,Orphanet:ORPHA244;MedGen:CN169374 9 34459027 34459027 G T 175106 single nucleotide variant NM_012144.3(DNAI1):c.356G>A (p.Arg119Gln) 141704318 MedGen:CN169374 9 34489417 34489417 G A 175106 single nucleotide variant NM_012144.3(DNAI1):c.356G>A (p.Arg119Gln) 141704318 MedGen:CN169374 9 34489415 34489415 G A 175107 single nucleotide variant NM_012144.3(DNAI1):c.1003G>A (p.Val335Ile) 11793196 MedGen:C0008780,Orphanet:ORPHA244;MedGen:CN169374 9 34500821 34500821 G A 175107 single nucleotide variant NM_012144.3(DNAI1):c.1003G>A (p.Val335Ile) 11793196 MedGen:C0008780,Orphanet:ORPHA244;MedGen:CN169374 9 34500823 34500823 G A 175108 single nucleotide variant NM_012144.3(DNAI1):c.1604C>A (p.Thr535Asn) 76334696 MedGen:C0008780,Orphanet:ORPHA244;MedGen:CN169374 9 34514428 34514428 C A 175108 single nucleotide variant NM_012144.3(DNAI1):c.1604C>A (p.Thr535Asn) 76334696 MedGen:C0008780,Orphanet:ORPHA244;MedGen:CN169374 9 34514426 34514426 C A 175109 single nucleotide variant NM_012144.3(DNAI1):c.1825A>T (p.Ile609Leu) 727502978 MedGen:CN169374 9 34517289 34517289 A T 175109 single nucleotide variant NM_012144.3(DNAI1):c.1825A>T (p.Ile609Leu) 727502978 MedGen:CN169374 9 34517291 34517291 A T 191246 single nucleotide variant NM_012144.3(DNAI1):c.1063+19C>T 794727066 MedGen:CN169374 9 34501198 34501198 C T 191246 single nucleotide variant NM_012144.3(DNAI1):c.1063+19C>T 794727066 MedGen:CN169374 9 34501200 34501200 C T 191408 single nucleotide variant NM_012144.3(DNAI1):c.1222G>A (p.Val408Met) 794727103 MedGen:CN169374 9 34506783 34506783 G A 191408 single nucleotide variant NM_012144.3(DNAI1):c.1222G>A (p.Val408Met) 794727103 MedGen:CN169374 9 34506785 34506785 G A 194954 single nucleotide variant NM_012144.3(DNAI1):c.370C>T (p.Arg124Cys) 116938457 MedGen:C0008780,Orphanet:ORPHA244;MedGen:CN169374 9 34489429 34489429 C T 194954 single nucleotide variant NM_012144.3(DNAI1):c.370C>T (p.Arg124Cys) 116938457 MedGen:C0008780,Orphanet:ORPHA244;MedGen:CN169374 9 34489431 34489431 C T 212669 single nucleotide variant NM_012144.3(DNAI1):c.1948C>T (p.Arg650Cys) 140820295 MedGen:C0008780,Orphanet:ORPHA244 9 34517412 34517412 C T 212669 single nucleotide variant NM_012144.3(DNAI1):c.1948C>T (p.Arg650Cys) 140820295 MedGen:C0008780,Orphanet:ORPHA244 9 34517414 34517414 C T 221827 single nucleotide variant NM_012144.3(DNAI1):c.177T>C (p.Asp59=) 864622665 MedGen:C0008780,Orphanet:ORPHA244 9 34485237 34485237 T C 221827 single nucleotide variant NM_012144.3(DNAI1):c.177T>C (p.Asp59=) 864622665 MedGen:C0008780,Orphanet:ORPHA244 9 34485235 34485235 T C 221828 single nucleotide variant NM_012144.3(DNAI1):c.862C>T (p.Arg288Trp) 202213517 MedGen:C0008780,Orphanet:ORPHA244 9 34497158 34497158 C T 221828 single nucleotide variant NM_012144.3(DNAI1):c.862C>T (p.Arg288Trp) 202213517 MedGen:C0008780,Orphanet:ORPHA244 9 34497160 34497160 C T 229683 single nucleotide variant NM_012144.3(DNAI1):c.47A>G (p.Gln16Arg) 148701985 MedGen:CN169374 9 34459050 34459050 A G 229683 single nucleotide variant NM_012144.3(DNAI1):c.47A>G (p.Gln16Arg) 148701985 MedGen:CN169374 9 34459052 34459052 A G 229684 single nucleotide variant NM_012144.3(DNAI1):c.297A>G (p.Gln99=) 77344166 MedGen:C0008780,Orphanet:ORPHA244;MedGen:CN169374 9 34489356 34489356 A G 229684 single nucleotide variant NM_012144.3(DNAI1):c.297A>G (p.Gln99=) 77344166 MedGen:C0008780,Orphanet:ORPHA244;MedGen:CN169374 9 34489358 34489358 A G 229685 deletion NM_012144.3(DNAI1):c.336delC (p.Asp114Thrfs) 876657683 MedGen:C0008780,Orphanet:ORPHA244 9 34489395 34489395 C - 229685 deletion NM_012144.3(DNAI1):c.336delC (p.Asp114Thrfs) 876657683 MedGen:C0008780,Orphanet:ORPHA244 9 34489397 34489397 C - 229686 single nucleotide variant NM_012144.3(DNAI1):c.639G>A (p.Thr213=) 78865254 MedGen:C0008780,Orphanet:ORPHA244;MedGen:CN169374 9 34491510 34491510 G A 229686 single nucleotide variant NM_012144.3(DNAI1):c.639G>A (p.Thr213=) 78865254 MedGen:C0008780,Orphanet:ORPHA244;MedGen:CN169374 9 34491512 34491512 G A 229687 indel NM_012144.3(DNAI1):c.645_647delTCCinsCCT (p.Pro216Leu) 876657783 MedGen:CN169374 9 34491516 34491518 na CCT 229687 indel NM_012144.3(DNAI1):c.645_647delTCCinsCCT (p.Pro216Leu) 876657783 MedGen:CN169374 9 34491518 34491520 TCC CCT 240607 single nucleotide variant NM_012144.3(DNAI1):c.389-6A>G 878854966 MedGen:C0008780,Orphanet:ORPHA244 9 34490004 34490004 A G 240607 single nucleotide variant NM_012144.3(DNAI1):c.389-6A>G 878854966 MedGen:C0008780,Orphanet:ORPHA244 9 34490006 34490006 A G 240608 deletion NM_012144.3(DNAI1):c.526_528delGAA (p.Glu176del) 878854967 MedGen:C0008780,Orphanet:ORPHA244 9 34490393 34490395 GAA - 240608 deletion NM_012144.3(DNAI1):c.526_528delGAA (p.Glu176del) 878854967 MedGen:C0008780,Orphanet:ORPHA244 9 34490391 34490393 GAA - 240609 single nucleotide variant NM_012144.3(DNAI1):c.912C>G (p.Tyr304Ter) 878854968 MedGen:C0008780,Orphanet:ORPHA244 9 34500732 34500732 C G 240609 single nucleotide variant NM_012144.3(DNAI1):c.912C>G (p.Tyr304Ter) 878854968 MedGen:C0008780,Orphanet:ORPHA244 9 34500730 34500730 C G 240610 single nucleotide variant NM_012144.3(DNAI1):c.978A>C (p.Gln326His) 16931555 MedGen:C0008780,Orphanet:ORPHA244;MedGen:CN169374 9 34500796 34500796 A C 240610 single nucleotide variant NM_012144.3(DNAI1):c.978A>C (p.Gln326His) 16931555 MedGen:C0008780,Orphanet:ORPHA244;MedGen:CN169374 9 34500798 34500798 A C 240611 single nucleotide variant NM_012144.3(DNAI1):c.1307G>A (p.Trp436Ter) 769284314 MedGen:C0008780,Orphanet:ORPHA244 9 34506868 34506868 G A 240611 single nucleotide variant NM_012144.3(DNAI1):c.1307G>A (p.Trp436Ter) 769284314 MedGen:C0008780,Orphanet:ORPHA244 9 34506870 34506870 G A 240612 single nucleotide variant NM_012144.3(DNAI1):c.1644G>A (p.Trp548Ter) 200669099 MedGen:C0008780,Orphanet:ORPHA244 9 34514466 34514466 G A 240612 single nucleotide variant NM_012144.3(DNAI1):c.1644G>A (p.Trp548Ter) 200669099 MedGen:C0008780,Orphanet:ORPHA244 9 34514468 34514468 G A 240613 single nucleotide variant NM_012144.3(DNAI1):c.1929C>A (p.Ile643=) 146434058 MedGen:C0008780,Orphanet:ORPHA244 9 34517393 34517393 C A 240613 single nucleotide variant NM_012144.3(DNAI1):c.1929C>A (p.Ile643=) 146434058 MedGen:C0008780,Orphanet:ORPHA244 9 34517395 34517395 C A 253510 single nucleotide variant NM_012144.3(DNAI1):c.180G>A (p.Ala60=) 201120508 MedGen:CN169374 9 34485238 34485238 G A 253510 single nucleotide variant NM_012144.3(DNAI1):c.180G>A (p.Ala60=) 201120508 MedGen:CN169374 9 34485240 34485240 G A 253511 single nucleotide variant NM_012144.3(DNAI1):c.501+16G>A 373496626 MedGen:CN169374 9 34490138 34490138 G A 253511 single nucleotide variant NM_012144.3(DNAI1):c.501+16G>A 373496626 MedGen:CN169374 9 34490140 34490140 G A 253512 single nucleotide variant NM_012144.3(DNAI1):c.660C>T (p.Asn220=) 146015192 MedGen:CN169374 9 34491531 34491531 C T 253512 single nucleotide variant NM_012144.3(DNAI1):c.660C>T (p.Asn220=) 146015192 MedGen:CN169374 9 34491533 34491533 C T 253513 single nucleotide variant NM_012144.3(DNAI1):c.1019+42C>T 10814116 MedGen:CN169374 9 34500879 34500879 C T 253513 single nucleotide variant NM_012144.3(DNAI1):c.1019+42C>T 10814116 MedGen:CN169374 9 34500881 34500881 C T 253514 single nucleotide variant NM_012144.3(DNAI1):c.1064-20C>T 1571404 MedGen:CN169374 9 34506605 34506605 C T 253514 single nucleotide variant NM_012144.3(DNAI1):c.1064-20C>T 1571404 MedGen:CN169374 9 34506607 34506607 C T 253515 single nucleotide variant NM_012144.3(DNAI1):c.1064-7T>C 886038584 MedGen:CN169374 9 34506618 34506618 T C 253515 single nucleotide variant NM_012144.3(DNAI1):c.1064-7T>C 886038584 MedGen:CN169374 9 34506620 34506620 T C 253516 single nucleotide variant NM_012144.3(DNAI1):c.1177G>A (p.Val393Met) 141089746 MedGen:CN169374 9 34506740 34506740 G A 253516 single nucleotide variant NM_012144.3(DNAI1):c.1177G>A (p.Val393Met) 141089746 MedGen:CN169374 9 34506738 34506738 G A 253517 single nucleotide variant NM_012144.3(DNAI1):c.1215C>T (p.Asp405=) 376177487 MedGen:CN169374 9 34506776 34506776 C T 253517 single nucleotide variant NM_012144.3(DNAI1):c.1215C>T (p.Asp405=) 376177487 MedGen:CN169374 9 34506778 34506778 C T 253518 single nucleotide variant NM_012144.3(DNAI1):c.1365A>G (p.Ser455=) 376496298 MedGen:CN169374 9 34512160 34512160 A G 253518 single nucleotide variant NM_012144.3(DNAI1):c.1365A>G (p.Ser455=) 376496298 MedGen:CN169374 9 34512162 34512162 A G 253519 single nucleotide variant NM_012144.3(DNAI1):c.1401+17G>A 138412741 MedGen:CN169374 9 34512215 34512215 G A 253519 single nucleotide variant NM_012144.3(DNAI1):c.1401+17G>A 138412741 MedGen:CN169374 9 34512213 34512213 G A 253520 single nucleotide variant NM_012144.3(DNAI1):c.1902C>T (p.His634=) 139197229 MedGen:CN169374 9 34517366 34517366 C T 253520 single nucleotide variant NM_012144.3(DNAI1):c.1902C>T (p.His634=) 139197229 MedGen:CN169374 9 34517368 34517368 C T 253521 single nucleotide variant NM_012144.3(DNAI1):c.2001+19T>A 144066349 MedGen:CN169374 9 34517484 34517484 T A 253521 single nucleotide variant NM_012144.3(DNAI1):c.2001+19T>A 144066349 MedGen:CN169374 9 34517486 34517486 T A 253522 single nucleotide variant NM_012144.3(DNAI1):c.2002-8C>T 886038585 MedGen:CN169374 9 34520648 34520648 C T 253522 single nucleotide variant NM_012144.3(DNAI1):c.2002-8C>T 886038585 MedGen:CN169374 9 34520650 34520650 C T 272157 indel NM_012144.3(DNAI1):c.375_378delTGAAinsG (p.Asp125del) 886043759 MedGen:CN169374 9 34489434 34489437 TGAA G 272157 indel NM_012144.3(DNAI1):c.375_378delTGAAinsG (p.Asp125del) 886043759 MedGen:CN169374 9 34489436 34489439 TGAA G 272981 single nucleotide variant NM_012144.3(DNAI1):c.1703G>C (p.Trp568Ser) 772686744 MedGen:CN169374 9 34514525 34514525 G C 272981 single nucleotide variant NM_012144.3(DNAI1):c.1703G>C (p.Trp568Ser) 772686744 MedGen:CN169374 9 34514527 34514527 G C 308212 single nucleotide variant NM_012144.3(DNAI1):c.-178G>C 3802429 MedGen:C0008780,Orphanet:ORPHA244 9 34458826 34458826 G C 308212 single nucleotide variant NM_012144.3(DNAI1):c.-178G>C 3802429 MedGen:C0008780,Orphanet:ORPHA244 9 34458828 34458828 G C 308214 single nucleotide variant NM_012144.3(DNAI1):c.-170T>A 55750068 MedGen:C0008780,Orphanet:ORPHA244 9 34458834 34458834 T A 308214 single nucleotide variant NM_012144.3(DNAI1):c.-170T>A 55750068 MedGen:C0008780,Orphanet:ORPHA244 9 34458836 34458836 T A 308215 single nucleotide variant NM_012144.3(DNAI1):c.359G>A (p.Arg120Gln) 375547221 MedGen:C0008780,Orphanet:ORPHA244 9 34489420 34489420 G A 308215 single nucleotide variant NM_012144.3(DNAI1):c.359G>A (p.Arg120Gln) 375547221 MedGen:C0008780,Orphanet:ORPHA244 9 34489418 34489418 G A 308217 single nucleotide variant NM_012144.3(DNAI1):c.389-15C>T 886063881 MedGen:C0008780,Orphanet:ORPHA244 9 34489995 34489995 C T 308217 single nucleotide variant NM_012144.3(DNAI1):c.389-15C>T 886063881 MedGen:C0008780,Orphanet:ORPHA244 9 34489997 34489997 C T 308221 single nucleotide variant NM_012144.3(DNAI1):c.649C>G (p.Pro217Ala) 886063882 MedGen:C0008780,Orphanet:ORPHA244 9 34491522 34491522 C G 308221 single nucleotide variant NM_012144.3(DNAI1):c.649C>G (p.Pro217Ala) 886063882 MedGen:C0008780,Orphanet:ORPHA244 9 34491520 34491520 C G 308227 single nucleotide variant NM_012144.3(DNAI1):c.1195G>A (p.Val399Met) 150261456 MedGen:C0008780,Orphanet:ORPHA244 9 34506758 34506758 G A 308227 single nucleotide variant NM_012144.3(DNAI1):c.1195G>A (p.Val399Met) 150261456 MedGen:C0008780,Orphanet:ORPHA244 9 34506756 34506756 G A 308228 single nucleotide variant NM_012144.3(DNAI1):c.1291C>G (p.His431Asp) 756877115 MedGen:C0008780,Orphanet:ORPHA244 9 34506854 34506854 C G 308228 single nucleotide variant NM_012144.3(DNAI1):c.1291C>G (p.His431Asp) 756877115 MedGen:C0008780,Orphanet:ORPHA244 9 34506852 34506852 C G 308232 single nucleotide variant NM_012144.3(DNAI1):c.1489+8C>A 547508610 MedGen:C0008780,Orphanet:ORPHA244 9 34512432 34512432 C A 308232 single nucleotide variant NM_012144.3(DNAI1):c.1489+8C>A 547508610 MedGen:C0008780,Orphanet:ORPHA244 9 34512430 34512430 C A 312602 single nucleotide variant NM_012144.3(DNAI1):c.1999A>G (p.Lys667Glu) 560719255 MedGen:C0008780,Orphanet:ORPHA244 9 34517465 34517465 A G 312602 single nucleotide variant NM_012144.3(DNAI1):c.1999A>G (p.Lys667Glu) 560719255 MedGen:C0008780,Orphanet:ORPHA244 9 34517463 34517463 A G 318484 single nucleotide variant NM_012144.3(DNAI1):c.-145C>T 886063880 MedGen:C0008780,Orphanet:ORPHA244 9 34458859 34458859 C T 318484 single nucleotide variant NM_012144.3(DNAI1):c.-145C>T 886063880 MedGen:C0008780,Orphanet:ORPHA244 9 34458861 34458861 C T 318485 single nucleotide variant NM_012144.3(DNAI1):c.-41T>C 200245894 MedGen:C0008780,Orphanet:ORPHA244 9 34458963 34458963 T C 318485 single nucleotide variant NM_012144.3(DNAI1):c.-41T>C 200245894 MedGen:C0008780,Orphanet:ORPHA244 9 34458965 34458965 T C 318491 single nucleotide variant NM_012144.3(DNAI1):c.169T>C (p.Leu57=) 779175158 MedGen:C0008780,Orphanet:ORPHA244 9 34485227 34485227 T C 318491 single nucleotide variant NM_012144.3(DNAI1):c.169T>C (p.Leu57=) 779175158 MedGen:C0008780,Orphanet:ORPHA244 9 34485229 34485229 T C 318494 single nucleotide variant NM_012144.3(DNAI1):c.638C>T (p.Thr213Met) 201754555 MedGen:C0008780,Orphanet:ORPHA244 9 34491511 34491511 C T 318494 single nucleotide variant NM_012144.3(DNAI1):c.638C>T (p.Thr213Met) 201754555 MedGen:C0008780,Orphanet:ORPHA244 9 34491509 34491509 C T 318495 single nucleotide variant NM_012144.3(DNAI1):c.1913A>G (p.Asn638Ser) 201773877 MedGen:C0008780,Orphanet:ORPHA244 9 34517379 34517379 A G 318495 single nucleotide variant NM_012144.3(DNAI1):c.1913A>G (p.Asn638Ser) 201773877 MedGen:C0008780,Orphanet:ORPHA244 9 34517377 34517377 A G 319006 single nucleotide variant NM_012144.3(DNAI1):c.-180G>A 180838420 MedGen:C0008780,Orphanet:ORPHA244 9 34458824 34458824 G A 319006 single nucleotide variant NM_012144.3(DNAI1):c.-180G>A 180838420 MedGen:C0008780,Orphanet:ORPHA244 9 34458826 34458826 G A 319009 single nucleotide variant NM_012144.3(DNAI1):c.-83G>C 766124282 MedGen:C0008780,Orphanet:ORPHA244 9 34458921 34458921 G C 319009 single nucleotide variant NM_012144.3(DNAI1):c.-83G>C 766124282 MedGen:C0008780,Orphanet:ORPHA244 9 34458923 34458923 G C 319010 single nucleotide variant NM_012144.3(DNAI1):c.1020-14A>T 777973486 MedGen:C0008780,Orphanet:ORPHA244 9 34501124 34501124 A T 319010 single nucleotide variant NM_012144.3(DNAI1):c.1020-14A>T 777973486 MedGen:C0008780,Orphanet:ORPHA244 9 34501122 34501122 A T 319019 single nucleotide variant NM_012144.3(DNAI1):c.1719-11C>T 774758389 MedGen:C0008780,Orphanet:ORPHA244 9 34514629 34514629 C T 319019 single nucleotide variant NM_012144.3(DNAI1):c.1719-11C>T 774758389 MedGen:C0008780,Orphanet:ORPHA244 9 34514627 34514627 C 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 9 34459025 rs11547035 G T rs11547035 1.11E-04 Alzheimer's disease (late onset) HPOID:0002511 DOID:10652 G missense GWASdb_trait 9 34464433 rs10125115 T C rs10125115 3.94E-04 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait 9 34469025 rs4879795 G A rs4879795 4.75E-06 Rheumatoid arthritis HPOID:0001370 DOID:7148 A intron GWASdb_trait 9 34509746 rs4879801 G A rs4879801 4.21E-06 Rheumatoid arthritis HPOID:0001370 DOID:7148 A intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000122735.15 DNAI1 604366