Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 18346 single nucleotide variant NM_000383.3(AIRE):c.769C>T (p.Arg257Ter) 121434254 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859;MedGen:CN221809 21 45709656 45709656 C T 18346 single nucleotide variant NM_000383.3(AIRE):c.769C>T (p.Arg257Ter) 121434254 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859;MedGen:CN221809 21 44289773 44289773 C T 18347 single nucleotide variant NM_000383.3(AIRE):c.247A>G (p.Lys83Glu) 121434255 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 45706554 45706554 A G 18347 single nucleotide variant NM_000383.3(AIRE):c.247A>G (p.Lys83Glu) 121434255 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 44286671 44286671 A G 18348 deletion NM_000383.3(AIRE):c.967_979delCTGTCCCCTCCGC (p.Leu323Serfs) 386833675 MedGen:C2749602;MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859;MedGen:CN221809 21 45711065 45711077 CTGTCCCCTCCGC - 18348 deletion NM_000383.3(AIRE):c.967_979delCTGTCCCCTCCGC (p.Leu323Serfs) 386833675 MedGen:C2749602;MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859;MedGen:CN221809 21 44291182 44291194 CTGTCCCCTCCGC - 18349 single nucleotide variant NM_000383.3(AIRE):c.415C>T (p.Arg139Ter) 121434256 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859;MedGen:CN221809 21 45706968 45706968 C T 18349 single nucleotide variant NM_000383.3(AIRE):c.415C>T (p.Arg139Ter) 121434256 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859;MedGen:CN221809 21 44287085 44287085 C T 18350 duplication NM_000383.3(AIRE):c.1103dupC (p.Leu370Alafs) 387906293 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 45712883 45712883 C CC 18350 duplication NM_000383.3(AIRE):c.1103dupC (p.Leu370Alafs) 387906293 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 44293000 44293000 C CC 18351 deletion NM_000383.3(AIRE):c.1513delG (p.Ala505Profs) 387906294 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 45716275 45716275 G - 18351 deletion NM_000383.3(AIRE):c.1513delG (p.Ala505Profs) 387906294 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 44296392 44296392 G - 18352 single nucleotide variant NM_000383.3(AIRE):c.682G>T (p.Gly228Trp) 121434257 MedGen:C1855869 21 45709569 45709569 G T 18352 single nucleotide variant NM_000383.3(AIRE):c.682G>T (p.Gly228Trp) 121434257 MedGen:C1855869 21 44289686 44289686 G T 18353 single nucleotide variant NM_000383.3(AIRE):c.1A>T (p.Met1Leu) 121434258 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 45705890 45705890 A T 18353 single nucleotide variant NM_000383.3(AIRE):c.1A>T (p.Met1Leu) 121434258 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 44286007 44286007 A T 18354 deletion NM_000383.3(AIRE):c.789delC (p.Ala264Leufs) 387906295 MedGen:C2749602 21 45709676 45709676 C - 18354 deletion NM_000383.3(AIRE):c.789delC (p.Ala264Leufs) 387906295 MedGen:C2749602 21 44289793 44289793 C - 18355 duplication AIRE, 4-BP DUP, 205CAGG -1 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 na -1 -1 na na 18356 single nucleotide variant NM_000383.3(AIRE):c.239T>G (p.Val80Gly) 267606642 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 45706546 45706546 T G 18356 single nucleotide variant NM_000383.3(AIRE):c.239T>G (p.Val80Gly) 267606642 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 44286663 44286663 T G 44322 single nucleotide variant NM_000383.3(AIRE):c.1203T>C (p.Pro401Pro=) 61737072 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859;MedGen:CN169374 21 45712983 45712983 T C 44322 single nucleotide variant NM_000383.3(AIRE):c.1203T>C (p.Pro401Pro=) 61737072 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859;MedGen:CN169374 21 44293100 44293100 T C 44323 single nucleotide variant NM_000383.3(AIRE):c.1279-18C>T 72650678 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 45713654 45713654 C T 44323 single nucleotide variant NM_000383.3(AIRE):c.1279-18C>T 72650678 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 44293771 44293771 C T 44324 single nucleotide variant NM_000383.3(AIRE):c.1296G>A (p.Ala432Ala=) 144359012 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 45713689 45713689 G A 44324 single nucleotide variant NM_000383.3(AIRE):c.1296G>A (p.Ala432Ala=) 144359012 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 44293806 44293806 G A 44325 single nucleotide variant NM_000383.3(AIRE):c.1322C>T (p.Thr441Met) 72650677 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 45713715 45713715 C T 44325 single nucleotide variant NM_000383.3(AIRE):c.1322C>T (p.Thr441Met) 72650677 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 44293832 44293832 C T 44326 single nucleotide variant NM_000383.3(AIRE):c.1404G>A (p.Thr468Thr=) 7281600 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 45714287 45714287 G A 44326 single nucleotide variant NM_000383.3(AIRE):c.1404G>A (p.Thr468Thr=) 7281600 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 44294404 44294404 G A 44327 single nucleotide variant NM_000383.3(AIRE):c.1567-5C>T 192215705 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859;MedGen:CN169374 21 45717534 45717534 C T 44327 single nucleotide variant NM_000383.3(AIRE):c.1567-5C>T 192215705 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859;MedGen:CN169374 21 44297651 44297651 C T 44328 single nucleotide variant NM_000383.3(AIRE):c.342G>T (p.Lys114Asn) 142788946 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 45706895 45706895 G T 44328 single nucleotide variant NM_000383.3(AIRE):c.342G>T (p.Lys114Asn) 142788946 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 44287012 44287012 G T 44329 single nucleotide variant NM_000383.3(AIRE):c.371C>T (p.Pro124Leu) 193922417 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 45706924 45706924 C T 44329 single nucleotide variant NM_000383.3(AIRE):c.371C>T (p.Pro124Leu) 193922417 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 44287041 44287041 C T 44330 single nucleotide variant NM_000383.3(AIRE):c.463G>A (p.Gly155Ser) 193922418 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 45707016 45707016 G A 44330 single nucleotide variant NM_000383.3(AIRE):c.463G>A (p.Gly155Ser) 193922418 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 44287133 44287133 G A 44331 deletion NM_000383.3(AIRE):c.538+42delA 3214074 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 45707516 45707516 A - 44331 deletion NM_000383.3(AIRE):c.538+42delA 3214074 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 44287633 44287633 A - 44332 single nucleotide variant NM_000383.3(AIRE):c.652+14C>T 41277546 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 45708355 45708355 C T 44332 single nucleotide variant NM_000383.3(AIRE):c.652+14C>T 41277546 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 44288472 44288472 C T 44333 single nucleotide variant NM_000383.3(AIRE):c.755C>T (p.Pro252Leu) 34397615 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 45709642 45709642 C T 44333 single nucleotide variant NM_000383.3(AIRE):c.755C>T (p.Pro252Leu) 34397615 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 44289759 44289759 C T 44334 single nucleotide variant NM_000383.3(AIRE):c.99T>C (p.Ala33=) 3746964 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859;MedGen:CN169374 21 45705988 45705988 T C 44334 single nucleotide variant NM_000383.3(AIRE):c.99T>C (p.Ala33=) 3746964 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859;MedGen:CN169374 21 44286105 44286105 T C 70860 insertion NM_000383.3(AIRE):c.1163_1164insA (p.Met388Ilefs) 386833672 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 45712943 45712944 - A 70860 insertion NM_000383.3(AIRE):c.1163_1164insA (p.Met388Ilefs) 386833672 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 44293060 44293061 - A 70861 single nucleotide variant NM_000383.3(AIRE):c.1638A>T (p.Ter546Cys) 386833673 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 45717610 45717610 A T 70861 single nucleotide variant NM_000383.3(AIRE):c.1638A>T (p.Ter546Cys) 386833673 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 44297727 44297727 A T 70862 single nucleotide variant NM_000383.3(AIRE):c.932G>A (p.Cys311Tyr) 386833674 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 45711030 45711030 G A 70862 single nucleotide variant NM_000383.3(AIRE):c.932G>A (p.Cys311Tyr) 386833674 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 44291147 44291147 G A 79109 single nucleotide variant NM_000383.3(AIRE):c.1616C>T (p.Pro539Leu) 179363889 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859;MedGen:CN221809 21 45717588 45717588 C T 79109 single nucleotide variant NM_000383.3(AIRE):c.1616C>T (p.Pro539Leu) 179363889 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859;MedGen:CN221809 21 44297705 44297705 C T 79110 single nucleotide variant NM_000383.3(AIRE):c.230T>C (p.Phe77Ser) 179363887 MedGen:CN221809 21 45706537 45706537 T C 79110 single nucleotide variant NM_000383.3(AIRE):c.230T>C (p.Phe77Ser) 179363887 MedGen:CN221809 21 44286654 44286654 T C 79111 single nucleotide variant NM_000383.3(AIRE):c.232T>A (p.Trp78Arg) 179363880 MedGen:CN221809 21 45706539 45706539 T A 79111 single nucleotide variant NM_000383.3(AIRE):c.232T>A (p.Trp78Arg) 179363880 MedGen:CN221809 21 44286656 44286656 T A 79112 single nucleotide variant NM_000383.3(AIRE):c.238G>T (p.Val80Leu) 179363881 MedGen:CN221809 21 45706545 45706545 G T 79112 single nucleotide variant NM_000383.3(AIRE):c.238G>T (p.Val80Leu) 179363881 MedGen:CN221809 21 44286662 44286662 G T 79113 single nucleotide variant NM_000383.3(AIRE):c.254A>G (p.Tyr85Cys) 179363882 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859;MedGen:CN221809 21 45706561 45706561 A G 79113 single nucleotide variant NM_000383.3(AIRE):c.254A>G (p.Tyr85Cys) 179363882 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859;MedGen:CN221809 21 44286678 44286678 A G 79114 single nucleotide variant NM_000383.3(AIRE):c.269A>G (p.Tyr90Cys) 179363883 MedGen:CN221809 21 45706576 45706576 A G 79114 single nucleotide variant NM_000383.3(AIRE):c.269A>G (p.Tyr90Cys) 179363883 MedGen:CN221809 21 44286693 44286693 A G 79115 single nucleotide variant NM_000383.3(AIRE):c.278T>G (p.Leu93Arg) 179363884 MedGen:CN221809 21 45706585 45706585 T G 79115 single nucleotide variant NM_000383.3(AIRE):c.278T>G (p.Leu93Arg) 179363884 MedGen:CN221809 21 44286702 44286702 T G 79116 single nucleotide variant NM_000383.3(AIRE):c.43C>T (p.Arg15Cys) 179363875 MedGen:CN221809 21 45705932 45705932 C T 79116 single nucleotide variant NM_000383.3(AIRE):c.43C>T (p.Arg15Cys) 179363875 MedGen:CN221809 21 44286049 44286049 C T 79117 single nucleotide variant NM_000383.3(AIRE):c.44G>T (p.Arg15Leu) 179363876 MedGen:CN221809 21 45705933 45705933 G T 79117 single nucleotide variant NM_000383.3(AIRE):c.44G>T (p.Arg15Leu) 179363876 MedGen:CN221809 21 44286050 44286050 G T 79118 single nucleotide variant NM_000383.3(AIRE):c.47C>T (p.Thr16Met) 179363877 MedGen:CN221809 21 45705936 45705936 C T 79118 single nucleotide variant NM_000383.3(AIRE):c.47C>T (p.Thr16Met) 179363877 MedGen:CN221809 21 44286053 44286053 C T 79119 single nucleotide variant NM_000383.3(AIRE):c.62C>T (p.Ala21Val) 179363886 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859;MedGen:CN221809 21 45705951 45705951 C T 79119 single nucleotide variant NM_000383.3(AIRE):c.62C>T (p.Ala21Val) 179363886 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859;MedGen:CN221809 21 44286068 44286068 C T 79120 single nucleotide variant NM_000383.3(AIRE):c.83T>C (p.Leu28Pro) 179363878 MedGen:CN221809 21 45705972 45705972 T C 79120 single nucleotide variant NM_000383.3(AIRE):c.83T>C (p.Leu28Pro) 179363878 MedGen:CN221809 21 44286089 44286089 T C 79121 single nucleotide variant NM_000383.3(AIRE):c.86T>C (p.Leu29Pro) 179363879 MedGen:CN221809 21 45705975 45705975 T C 79121 single nucleotide variant NM_000383.3(AIRE):c.86T>C (p.Leu29Pro) 179363879 MedGen:CN221809 21 44286092 44286092 T C 79122 single nucleotide variant NM_000383.3(AIRE):c.977C>A (p.Pro326Gln) 179363885 MedGen:CN221809 21 45711075 45711075 C A 79122 single nucleotide variant NM_000383.3(AIRE):c.977C>A (p.Pro326Gln) 179363885 MedGen:CN221809 21 44291192 44291192 C A 79123 single nucleotide variant NM_000383.3(AIRE):c.977C>T (p.Pro326Leu) 179363885 MedGen:CN221809 21 45711075 45711075 C T 79123 single nucleotide variant NM_000383.3(AIRE):c.977C>T (p.Pro326Leu) 179363885 MedGen:CN221809 21 44291192 44291192 C T 133778 single nucleotide variant NM_000383.3(AIRE):c.1095+6G>A 1800525 MedGen:CN169374 21 45712290 45712290 G A 133778 single nucleotide variant NM_000383.3(AIRE):c.1095+6G>A 1800525 MedGen:CN169374 21 44292407 44292407 G A 133779 single nucleotide variant NM_000383.3(AIRE):c.1096-9G>C 113512196 MedGen:CN169374 21 45712867 45712867 G C 133779 single nucleotide variant NM_000383.3(AIRE):c.1096-9G>C 113512196 MedGen:CN169374 21 44292984 44292984 G C 133781 single nucleotide variant NM_000383.3(AIRE):c.1411C>T (p.Arg471Cys) 74203920 MedGen:CN169374 21 45714294 45714294 C T 133781 single nucleotide variant NM_000383.3(AIRE):c.1411C>T (p.Arg471Cys) 74203920 MedGen:CN169374 21 44294411 44294411 C T 133782 single nucleotide variant NM_000383.3(AIRE):c.548C>A (p.Thr183Asn) 34219046 MedGen:CN169374 21 45708237 45708237 C A 133782 single nucleotide variant NM_000383.3(AIRE):c.548C>A (p.Thr183Asn) 34219046 MedGen:CN169374 21 44288354 44288354 C A 133783 single nucleotide variant NM_000383.3(AIRE):c.595G>A (p.Val199Ile) 74162061 MedGen:CN221809;MedGen:CN169374 21 45708284 45708284 G A 133783 single nucleotide variant NM_000383.3(AIRE):c.595G>A (p.Val199Ile) 74162061 MedGen:CN221809;MedGen:CN169374 21 44288401 44288401 G A 133784 single nucleotide variant NM_000383.3(AIRE):c.789C>T (p.Gly263=) 138066507 MedGen:CN221809 21 45709676 45709676 C T 133784 single nucleotide variant NM_000383.3(AIRE):c.789C>T (p.Gly263=) 138066507 MedGen:CN221809 21 44289793 44289793 C T 133785 single nucleotide variant NM_000383.3(AIRE):c.1197T>C (p.Ala399=) 1800521 MedGen:CN169374 21 45712977 45712977 T C 133785 single nucleotide variant NM_000383.3(AIRE):c.1197T>C (p.Ala399=) 1800521 MedGen:CN169374 21 44293094 44293094 T C 133786 single nucleotide variant NM_000383.3(AIRE):c.1578T>C (p.Asp526=) 1133779 MedGen:CN169374 21 45717550 45717550 T C 133786 single nucleotide variant NM_000383.3(AIRE):c.1578T>C (p.Asp526=) 1133779 MedGen:CN169374 21 44297667 44297667 T C 133787 single nucleotide variant NM_000383.3(AIRE):c.588C>T (p.Ser196=) 878081 MedGen:CN169374 21 45708277 45708277 C T 133787 single nucleotide variant NM_000383.3(AIRE):c.588C>T (p.Ser196=) 878081 MedGen:CN169374 21 44288394 44288394 C T 133788 single nucleotide variant NM_000383.3(AIRE):c.681C>T (p.Gly227=) 1055311 MedGen:CN169374 21 45709568 45709568 C T 133788 single nucleotide variant NM_000383.3(AIRE):c.681C>T (p.Gly227=) 1055311 MedGen:CN169374 21 44289685 44289685 C T 133789 single nucleotide variant NM_000383.3(AIRE):c.834C>G (p.Ser278Arg) 1800520 MedGen:CN169374 21 45709906 45709906 C G 133789 single nucleotide variant NM_000383.3(AIRE):c.834C>G (p.Ser278Arg) 1800520 MedGen:CN169374 21 44290023 44290023 C G 187064 single nucleotide variant NM_000383.3(AIRE):c.232T>C (p.Trp78Arg) 179363880 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 44286656 44286656 T C 187064 single nucleotide variant NM_000383.3(AIRE):c.232T>C (p.Trp78Arg) 179363880 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 45706539 45706539 T C 187065 single nucleotide variant NM_000383.3(AIRE):c.463+2T>C 786204478 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859;MedGen:CN221809 21 45707018 45707018 T C 187065 single nucleotide variant NM_000383.3(AIRE):c.463+2T>C 786204478 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859;MedGen:CN221809 21 44287135 44287135 T C 187066 duplication NM_000383.3(AIRE):c.1249dupC (p.Leu417Profs) 786204567 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859;MedGen:CN221809 21 44293146 44293146 C CC 187066 duplication NM_000383.3(AIRE):c.1249dupC (p.Leu417Profs) 786204567 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859;MedGen:CN221809 21 45713029 45713029 C CC 195579 single nucleotide variant NM_000383.3(AIRE):c.841G>A (p.Ala281Thr) 778148534 MedGen:CN169374 21 45709913 45709913 G A 195579 single nucleotide variant NM_000383.3(AIRE):c.841G>A (p.Ala281Thr) 778148534 MedGen:CN169374 21 44290030 44290030 G A 237374 single nucleotide variant NM_000383.3(AIRE):c.497C>T (p.Pro166Leu) 11910214 MedGen:CN221809 21 45707433 45707433 C T 237374 single nucleotide variant NM_000383.3(AIRE):c.497C>T (p.Pro166Leu) 11910214 MedGen:CN221809 21 44287550 44287550 C T 257475 single nucleotide variant NM_000383.3(AIRE):c.1476C>T (p.Pro492=) 72650679 MedGen:CN169374 21 45714359 45714359 C T 257475 single nucleotide variant NM_000383.3(AIRE):c.1476C>T (p.Pro492=) 72650679 MedGen:CN169374 21 44294476 44294476 C T 260243 single nucleotide variant NM_000383.3(AIRE):c.901G>A (p.Val301Met) 150634562 MedGen:CN221809 21 45710999 45710999 G A 260243 single nucleotide variant NM_000383.3(AIRE):c.901G>A (p.Val301Met) 150634562 MedGen:CN221809 21 44291116 44291116 G A 260244 deletion NM_000383.3(AIRE):c.1265delC (p.Pro422Leufs) 886039556 MedGen:CN221809 21 45713045 45713045 C - 260244 deletion NM_000383.3(AIRE):c.1265delC (p.Pro422Leufs) 886039556 MedGen:CN221809 21 44293162 44293162 C - 264768 duplication NM_000383.3(AIRE):c.205_208dupCAGG (p.Asp70Alafs) 886041124 MedGen:CN221809 21 45706515 45706515 CAGG CAGGCAGG 264768 duplication NM_000383.3(AIRE):c.205_208dupCAGG (p.Asp70Alafs) 886041124 MedGen:CN221809 21 44286629 44286632 CAGG CAGGCAGG 264915 indel NM_000383.3(AIRE):c.199_202delCTGAinsTGG (p.Leu67Trpfs) 886041123 MedGen:CN221809 21 45706506 45706509 CTGA TGG 264915 indel NM_000383.3(AIRE):c.199_202delCTGAinsTGG (p.Leu67Trpfs) 886041123 MedGen:CN221809 21 44286623 44286626 CTGA TGG 264972 indel NM_000383.3(AIRE):c.132+1_132+3delGTGinsCT 886041293 MedGen:CN221809 21 45706022 45706024 GTG CT 264972 indel NM_000383.3(AIRE):c.132+1_132+3delGTGinsCT 886041293 MedGen:CN221809 21 44286139 44286141 GTG CT 269613 single nucleotide variant NM_000383.3(AIRE):c.655G>A (p.Gly219Ser) 139620961 MedGen:CN169374 21 45709542 45709542 G A 269613 single nucleotide variant NM_000383.3(AIRE):c.655G>A (p.Gly219Ser) 139620961 MedGen:CN169374 21 44289659 44289659 G A 270113 single nucleotide variant NM_000383.3(AIRE):c.1066C>T (p.Arg356Trp) 376901046 MedGen:CN169374 21 45712255 45712255 C T 270113 single nucleotide variant NM_000383.3(AIRE):c.1066C>T (p.Arg356Trp) 376901046 MedGen:CN169374 21 44292372 44292372 C T 272046 single nucleotide variant NM_000383.3(AIRE):c.564C>G (p.Val188=) 201650973 MedGen:CN169374 21 45708253 45708253 C G 272046 single nucleotide variant NM_000383.3(AIRE):c.564C>G (p.Val188=) 201650973 MedGen:CN169374 21 44288370 44288370 C G 358649 single nucleotide variant NM_000383.3(AIRE):c.157G>T (p.Glu53Ter) 1057516272 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 45706464 45706464 G T 358649 single nucleotide variant NM_000383.3(AIRE):c.157G>T (p.Glu53Ter) 1057516272 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 44286581 44286581 G T 358650 single nucleotide variant NM_000383.3(AIRE):c.233G>A (p.Trp78Ter) 1057516499 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 44286657 44286657 G A 358650 single nucleotide variant NM_000383.3(AIRE):c.233G>A (p.Trp78Ter) 1057516499 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 45706540 45706540 G A 358651 single nucleotide variant NM_000383.3(AIRE):c.255C>A (p.Tyr85Ter) 1057516225 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 44286679 44286679 C A 358651 single nucleotide variant NM_000383.3(AIRE):c.255C>A (p.Tyr85Ter) 1057516225 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 45706562 45706562 C A 358652 deletion NM_000383.3(AIRE):c.260delT (p.Leu87Argfs) 1057517428 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 44286684 44286684 T - 358652 deletion NM_000383.3(AIRE):c.260delT (p.Leu87Argfs) 1057517428 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 45706567 45706567 T - 358653 indel NM_000383.3(AIRE):c.457_458delAGinsC (p.Ser153Profs) 1057516314 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 45707010 45707011 AG C 358653 indel NM_000383.3(AIRE):c.457_458delAGinsC (p.Ser153Profs) 1057516314 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 44287127 44287128 AG C 358654 single nucleotide variant NM_000383.3(AIRE):c.517C>T (p.Gln173Ter) 1057517241 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 45707453 45707453 C T 358654 single nucleotide variant NM_000383.3(AIRE):c.517C>T (p.Gln173Ter) 1057517241 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 44287570 44287570 C T 358655 single nucleotide variant NM_000383.3(AIRE):c.652+1G>T 199612115 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 44288459 44288459 G T 358655 single nucleotide variant NM_000383.3(AIRE):c.652+1G>T 199612115 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 45708342 45708342 G T 358656 deletion NM_000383.3(AIRE):c.809_810delAG (p.Glu270Glyfs) 1057517268 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 44289998 44289999 AG - 358656 deletion NM_000383.3(AIRE):c.809_810delAG (p.Glu270Glyfs) 1057517268 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 45709881 45709882 AG - 358657 deletion NM_000383.3(AIRE):c.977delC (p.Pro326Argfs) 1057517011 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 44291192 44291192 C - 358657 deletion NM_000383.3(AIRE):c.977delC (p.Pro326Argfs) 1057517011 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 45711075 45711075 C - 358658 deletion NM_000383.3(AIRE):c.1084delG (p.Val362Trpfs) 1057517254 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 45712273 45712273 G - 358658 deletion NM_000383.3(AIRE):c.1084delG (p.Val362Trpfs) 1057517254 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 44292390 44292390 G - 358659 deletion NM_000383.3(AIRE):c.1116_1117delGG (p.Ala373Glyfs) 1057516411 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 45712896 45712897 GG - 358659 deletion NM_000383.3(AIRE):c.1116_1117delGG (p.Ala373Glyfs) 1057516411 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 44293013 44293014 GG - 358660 deletion NM_000383.3(AIRE):c.1278+1delG 1057516916 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 44293176 44293176 G - 358660 deletion NM_000383.3(AIRE):c.1278+1delG 1057516916 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 45713059 45713059 G - 358661 deletion NM_000383.3(AIRE):c.1480_1483delCGCC (p.Arg494Trpfs) 1057517072 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 44294480 44294483 CGCC - 358661 deletion NM_000383.3(AIRE):c.1480_1483delCGCC (p.Arg494Trpfs) 1057517072 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 45714363 45714366 CGCC - 358662 single nucleotide variant NM_000383.3(AIRE):c.1566+2T>A 1057516985 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 44296447 44296447 T A 358662 single nucleotide variant NM_000383.3(AIRE):c.1566+2T>A 1057516985 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 45716330 45716330 T A 358663 duplication NM_000383.3(AIRE):c.1566+2dupT 1057516811 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 45716330 45716330 T TT 358663 duplication NM_000383.3(AIRE):c.1566+2dupT 1057516811 MedGen:C0085859,OMIM:240300,SNOMED CT:C0085859 21 44296447 44296447 T TT 360492 deletion NM_000383.3(AIRE):c.823delC (p.Gln275Serfs) 1057517703 MedGen:CN221809 21 45709895 45709895 C - 360492 deletion NM_000383.3(AIRE):c.823delC (p.Gln275Serfs) 1057517703 MedGen:CN221809 21 44290012 44290012 C - 360509 single nucleotide variant NM_000383.3(AIRE):c.26G>C (p.Arg9Pro) 1057517878 MedGen:CN221809 21 44286032 44286032 G C 360509 single nucleotide variant NM_000383.3(AIRE):c.26G>C (p.Arg9Pro) 1057517878 MedGen:CN221809 21 45705915 45705915 G C

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 21 45709153 rs2075876 G A rs2075876 4.00E-09 Rheumatoid arthritis HPOID:0001370 DOID:7148 G intron GWASdb_trait 21 45711202 rs1078480 A G rs1078480 5.67E-04 Schizophrenia HPOID:0100753 DOID:5419 C intron GWASdb_trait 21 45715386 rs2256817 G A rs2256817 1.72E-04 Hearing function HPOID:0000365 DOID:2742 A intron GWASdb_trait 21 45715814 rs760426 A G rs760426 2.89E-05 Triglycerides HPOID:0003119 DOID:3393|DOID:3146|DOID:2349 A intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000160224.16 AIRE 607358