Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 139069 single nucleotide variant NM_006290.3(TNFAIP3):c.305A>G (p.Asn102Ser) 146534657 MedGen:CN169374 6 138195991 138195991 A G 139069 single nucleotide variant NM_006290.3(TNFAIP3):c.305A>G (p.Asn102Ser) 146534657 MedGen:CN169374 6 137874854 137874854 A G 139070 single nucleotide variant NM_006290.3(TNFAIP3):c.322A>G (p.Thr108Ala) 376205580 MedGen:CN169374 6 138196008 138196008 A G 139070 single nucleotide variant NM_006290.3(TNFAIP3):c.322A>G (p.Thr108Ala) 376205580 MedGen:CN169374 6 137874871 137874871 A G 139071 single nucleotide variant NM_001270508.1(TNFAIP3):c.374C>T (p.Ala125Val) 5029941 MedGen:CN169374 6 138196060 138196060 C T 139071 single nucleotide variant NM_001270508.1(TNFAIP3):c.374C>T (p.Ala125Val) 5029941 MedGen:CN169374 6 137874923 137874923 C T 139072 single nucleotide variant NM_006290.3(TNFAIP3):c.484C>T (p.Arg162Trp) 587778710 MedGen:CN169374 6 138196170 138196170 C T 139072 single nucleotide variant NM_006290.3(TNFAIP3):c.484C>T (p.Arg162Trp) 587778710 MedGen:CN169374 6 137875033 137875033 C T 139073 single nucleotide variant NM_006290.3(TNFAIP3):c.380T>G (p.Phe127Cys) 2230926 MedGen:CN169374 6 138196066 138196066 T G 139073 single nucleotide variant NM_006290.3(TNFAIP3):c.380T>G (p.Phe127Cys) 2230926 MedGen:CN169374 6 137874929 137874929 T G 139074 single nucleotide variant NM_006290.3(TNFAIP3):c.619A>C (p.Ile207Leu) 141807543 MedGen:CN169374 6 138196957 138196957 A C 139074 single nucleotide variant NM_006290.3(TNFAIP3):c.619A>C (p.Ile207Leu) 141807543 MedGen:CN169374 6 137875820 137875820 A C 139075 single nucleotide variant NM_006290.3(TNFAIP3):c.742A>G (p.Ile248Val) 587778711 MedGen:CN169374 6 138197240 138197240 A G 139075 single nucleotide variant NM_006290.3(TNFAIP3):c.742A>G (p.Ile248Val) 587778711 MedGen:CN169374 6 137876103 137876103 A G 139076 single nucleotide variant NM_006290.3(TNFAIP3):c.839G>A (p.Arg280Gln) 200840068 MedGen:CN169374 6 138198246 138198246 G A 139076 single nucleotide variant NM_006290.3(TNFAIP3):c.839G>A (p.Arg280Gln) 200840068 MedGen:CN169374 6 137877109 137877109 G A 139077 single nucleotide variant NM_006290.3(TNFAIP3):c.1634C>T (p.Ala545Val) 142752989 MedGen:CN169374 6 138200216 138200216 C T 139077 single nucleotide variant NM_006290.3(TNFAIP3):c.1634C>T (p.Ala545Val) 142752989 MedGen:CN169374 6 137879079 137879079 C T 139078 single nucleotide variant NM_006290.3(TNFAIP3):c.1651C>T (p.Leu551Phe) 587778712 MedGen:CN169374 6 138200233 138200233 C T 139078 single nucleotide variant NM_006290.3(TNFAIP3):c.1651C>T (p.Leu551Phe) 587778712 MedGen:CN169374 6 137879096 137879096 C T 139079 single nucleotide variant NM_006290.3(TNFAIP3):c.1771C>G (p.Leu591Val) 145392420 MedGen:CN169374 6 138200353 138200353 C G 139079 single nucleotide variant NM_006290.3(TNFAIP3):c.1771C>G (p.Leu591Val) 145392420 MedGen:CN169374 6 137879216 137879216 C G 139080 single nucleotide variant NM_006290.3(TNFAIP3):c.1811C>G (p.Thr604Arg) 564646155 MedGen:CN169374 6 138200393 138200393 C G 139080 single nucleotide variant NM_006290.3(TNFAIP3):c.1811C>G (p.Thr604Arg) 564646155 MedGen:CN169374 6 137879256 137879256 C G 139081 single nucleotide variant NM_006290.3(TNFAIP3):c.1232G>A (p.Arg411Gln) 587778713 MedGen:CN169374 6 138199814 138199814 G A 139081 single nucleotide variant NM_006290.3(TNFAIP3):c.1232G>A (p.Arg411Gln) 587778713 MedGen:CN169374 6 137878677 137878677 G A 139082 single nucleotide variant NM_006290.3(TNFAIP3):c.1364G>A (p.Gly455Glu) 587778714 MedGen:CN169374 6 138199946 138199946 G A 139082 single nucleotide variant NM_006290.3(TNFAIP3):c.1364G>A (p.Gly455Glu) 587778714 MedGen:CN169374 6 137878809 137878809 G A 139083 single nucleotide variant NM_006290.3(TNFAIP3):c.1208T>C (p.Leu403Ser) 587778715 MedGen:CN169374 6 138199790 138199790 T C 139083 single nucleotide variant NM_006290.3(TNFAIP3):c.1208T>C (p.Leu403Ser) 587778715 MedGen:CN169374 6 137878653 137878653 T C 139084 single nucleotide variant NM_006290.3(TNFAIP3):c.1939A>C (p.Thr647Pro) 142253225 MedGen:CN169374 6 138201240 138201240 A C 139084 single nucleotide variant NM_006290.3(TNFAIP3):c.1939A>C (p.Thr647Pro) 142253225 MedGen:CN169374 6 137880103 137880103 A C 139085 single nucleotide variant NM_006290.3(TNFAIP3):c.2036T>C (p.Ile679Thr) 140610274 MedGen:CN169374 6 138201337 138201337 T C 139085 single nucleotide variant NM_006290.3(TNFAIP3):c.2036T>C (p.Ile679Thr) 140610274 MedGen:CN169374 6 137880200 137880200 T C 139086 single nucleotide variant NM_006290.3(TNFAIP3):c.2140C>G (p.Pro714Ala) 369155845 MedGen:CN169374 6 138202223 138202223 C G 139086 single nucleotide variant NM_006290.3(TNFAIP3):c.2140C>G (p.Pro714Ala) 369155845 MedGen:CN169374 6 137881086 137881086 C G 139087 single nucleotide variant NM_006290.3(TNFAIP3):c.2231G>A (p.Gly744Asp) 150355046 MedGen:CN169374 6 138202314 138202314 G A 139087 single nucleotide variant NM_006290.3(TNFAIP3):c.2231G>A (p.Gly744Asp) 150355046 MedGen:CN169374 6 137881177 137881177 G A 216910 single nucleotide variant NM_006290.3(TNFAIP3):c.680T>A (p.Leu227Ter) 864321625 MedGen:CN234876,OMIM:616744 6 138197178 138197178 T A 216910 single nucleotide variant NM_006290.3(TNFAIP3):c.680T>A (p.Leu227Ter) 864321625 MedGen:CN234876,OMIM:616744 6 137876041 137876041 T A 216911 deletion NM_006290.3(TNFAIP3):c.671delT (p.Phe224Serfs) 864321682 MedGen:CN234876,OMIM:616744 6 138197169 138197169 T - 216911 deletion NM_006290.3(TNFAIP3):c.671delT (p.Phe224Serfs) 864321682 MedGen:CN234876,OMIM:616744 6 137876032 137876032 T - 216912 single nucleotide variant NM_006290.3(TNFAIP3):c.811C>T (p.Arg271Ter) 864321626 MedGen:CN234876,OMIM:616744 6 138198218 138198218 C T 216912 single nucleotide variant NM_006290.3(TNFAIP3):c.811C>T (p.Arg271Ter) 864321626 MedGen:CN234876,OMIM:616744 6 137877081 137877081 C T 216913 deletion NM_006290.3(TNFAIP3):c.1809delG (p.Thr604Argfs) 864321683 MedGen:CN234876,OMIM:616744 6 138200391 138200391 G - 216913 deletion NM_006290.3(TNFAIP3):c.1809delG (p.Thr604Argfs) 864321683 MedGen:CN234876,OMIM:616744 6 137879254 137879254 G - 216914 single nucleotide variant NM_006290.3(TNFAIP3):c.918C>G (p.Tyr306Ter) 864321684 MedGen:CN234876,OMIM:616744 6 138198325 138198325 C G 216914 single nucleotide variant NM_006290.3(TNFAIP3):c.918C>G (p.Tyr306Ter) 864321684 MedGen:CN234876,OMIM:616744 6 137877188 137877188 C G 216915 deletion NM_006290.3(TNFAIP3):c.801delG (p.Pro268Leufs) 864321685 MedGen:CN234876,OMIM:616744 6 137876162 137876162 G - 216915 deletion NM_006290.3(TNFAIP3):c.801delG (p.Pro268Leufs) 864321685 MedGen:CN234876,OMIM:616744 6 138197299 138197299 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 6 138190154 rs3757173 A G rs3757173 7.20E-09 Systemic lupus erythematosus HPOID:0002725 DOID:9074 C intron GWASdb_trait 6 138195151 rs5029937 G T rs5029937 5.30E-13 Multiple sclerosis HPOID:0000096|HPOID:0001967|HPOID:0009741|HPOID:0008664|HPOID:0001150|HPOID:0005450|HPOID:0005652|HPOID:0005686|HPOID:0005789|HPOID:0100923|HPOID:0100925|HPOID:0006623|HPOID:0100861|HPOID:0002694|HPOID:0004979|HPOID:0003881|HPOID:0003991|HPOID:0003854|HPOID:0003933|HPOID:0004030|HPOID:0100899|HPOID:0002634 DOID:2377 G intron GWASdb_trait 6 138195151 rs5029937 G T rs5029937 1.40E-07 Rheumatoid arthritis HPOID:0001370 DOID:7148 G intron GWASdb_trait 6 138195723 rs5029939 C G rs5029939 1.21E-08 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait 6 138195723 rs5029939 C G rs5029939 3.00E-12 Systemic lupus erythematosus HPOID:0002725 DOID:9074 G intron GWASdb_trait 6 138195723 rs5029939 C G rs5029939 8.00E-09 Sjogren's syndrome HPOID:0002960 DOID:12894 G intron GWASdb_trait 6 138196066 rs2230926 T G rs2230926 1.00E-17 Systemic lupus erythematosus HPOID:0002725 DOID:9074 T missense GWASdb_trait 6 138196066 rs2230926 T G rs2230926 2.00E-06 Rheumatoid arthritis HPOID:0001370 DOID:7148 T missense GWASdb_trait 6 138196066 rs2230926 T G rs2230926 1.00E-13 Systemic lupus erythematosus HPOID:0002725 DOID:9074 T missense GWASdb_trait 6 138197506 rs5029949 A G rs5029949 3.51E-08 Rheumatoid arthritis HPOID:0001370 DOID:7148 A intron GWASdb_trait 6 138197824 rs582757 C T rs582757 8.31E-04 Multiple complex diseases HPOID:0000118 NA A intron GWASdb_trait 6 138197824 rs582757 C T rs582757 2.20E-25 Psoriasis HPOID:0003765 DOID:8893 A intron GWASdb_trait 6 138199417 rs610604 G T rs610604 9.00E-12 Psoriasis HPOID:0003765 DOID:8893 C intron GWASdb_trait 6 138199417 rs610604 G T rs610604 6.00E-12 Psoriasis HPOID:0003765 DOID:8893 C intron GWASdb_trait 6 138199417 rs610604 G T rs610604 7.00E-07 Psoriasis HPOID:0003765 DOID:8893 C intron GWASdb_trait 6 138199417 rs610604 G T rs610604 9.00E-12 Multiple sclerosis HPOID:0000096|HPOID:0001967|HPOID:0009741|HPOID:0008664|HPOID:0001150|HPOID:0005450|HPOID:0005652|HPOID:0005686|HPOID:0005789|HPOID:0100923|HPOID:0100925|HPOID:0006623|HPOID:0100861|HPOID:0002694|HPOID:0004979|HPOID:0003881|HPOID:0003991|HPOID:0003854|HPOID:0003933|HPOID:0004030|HPOID:0100899|HPOID:0002634 DOID:2377 C intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000118503.14 TNFAIP3 191163