Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 141324 single nucleotide variant NM_022168.3(IFIH1):c.2159G>A (p.Arg720Gln) 587777445 MedGen:CN188935,OMIM:615846 2 163133342 163133342 C T 141324 single nucleotide variant NM_022168.3(IFIH1):c.2159G>A (p.Arg720Gln) 587777445 MedGen:CN188935,OMIM:615846 2 162276832 162276832 C T 141325 single nucleotide variant NM_022168.3(IFIH1):c.2336G>A (p.Arg779His) 587777446 MedGen:CN188935,OMIM:615846;MedGen:CN221809 2 163130423 163130423 C T 141325 single nucleotide variant NM_022168.3(IFIH1):c.2336G>A (p.Arg779His) 587777446 MedGen:CN188935,OMIM:615846;MedGen:CN221809 2 162273913 162273913 C T 141326 single nucleotide variant NM_022168.3(IFIH1):c.1009A>G (p.Arg337Gly) 587777447 MedGen:CN188935,OMIM:615846 2 163144731 163144731 T C 141326 single nucleotide variant NM_022168.3(IFIH1):c.1009A>G (p.Arg337Gly) 587777447 MedGen:CN188935,OMIM:615846 2 162288221 162288221 T C 141327 single nucleotide variant NM_022168.3(IFIH1):c.2335C>T (p.Arg779Cys) 587777448 MedGen:CN188935,OMIM:615846;MedGen:CN221809 2 163130424 163130424 G A 141327 single nucleotide variant NM_022168.3(IFIH1):c.2335C>T (p.Arg779Cys) 587777448 MedGen:CN188935,OMIM:615846;MedGen:CN221809 2 162273914 162273914 G A 141328 single nucleotide variant NM_022168.3(IFIH1):c.1483G>A (p.Gly495Arg) 672601336 MedGen:CN188935,OMIM:615846 2 162281369 162281369 C T 141328 single nucleotide variant NM_022168.3(IFIH1):c.1483G>A (p.Gly495Arg) 672601336 MedGen:CN188935,OMIM:615846 2 163137879 163137879 C T 141329 single nucleotide variant NM_022168.3(IFIH1):c.1178A>T (p.Asp393Val) 587777449 MedGen:CN188935,OMIM:615846 2 163139004 163139004 T A 141329 single nucleotide variant NM_022168.3(IFIH1):c.1178A>T (p.Asp393Val) 587777449 MedGen:CN188935,OMIM:615846 2 162282494 162282494 T A 150464 single nucleotide variant NM_022168.3(IFIH1):c.1354G>A (p.Ala452Thr) 587777575 MedGen:CN188935,OMIM:615846 2 163138008 163138008 C T 150464 single nucleotide variant NM_022168.3(IFIH1):c.1354G>A (p.Ala452Thr) 587777575 MedGen:CN188935,OMIM:615846 2 162281498 162281498 C T 150465 single nucleotide variant NM_022168.3(IFIH1):c.1114C>T (p.Leu372Phe) 587777576 MedGen:CN188935,OMIM:615846 2 163139068 163139068 G A 150465 single nucleotide variant NM_022168.3(IFIH1):c.1114C>T (p.Leu372Phe) 587777576 MedGen:CN188935,OMIM:615846 2 162282558 162282558 G A 171336 single nucleotide variant NM_022168.3(IFIH1):c.816A>C (p.Glu272Asp) 193920867 MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 2 162293622 162293622 T G 171336 single nucleotide variant NM_022168.3(IFIH1):c.816A>C (p.Glu272Asp) 193920867 MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 2 163150132 163150132 T G 187227 single nucleotide variant NM_022168.3(IFIH1):c.2465G>A (p.Arg822Gln) 376048533 MedGen:CN033178,OMIM:182250 2 163128887 163128887 C T 187227 single nucleotide variant NM_022168.3(IFIH1):c.2465G>A (p.Arg822Gln) 376048533 MedGen:CN033178,OMIM:182250 2 162272377 162272377 C T 215224 single nucleotide variant NM_022168.3(IFIH1):c.2067G>T (p.Arg689Ser) 376420466 MedGen:CN169374 2 163133434 163133434 C A 215224 single nucleotide variant NM_022168.3(IFIH1):c.2067G>T (p.Arg689Ser) 376420466 MedGen:CN169374 2 162276924 162276924 C A 237237 single nucleotide variant NM_022168.3(IFIH1):c.1328A>G (p.Asp443Gly) 878853066 MedGen:CN221809 2 162281524 162281524 T C 237237 single nucleotide variant NM_022168.3(IFIH1):c.1328A>G (p.Asp443Gly) 878853066 MedGen:CN221809 2 163138034 163138034 T C 250306 single nucleotide variant NM_022168.3(IFIH1):c.2836G>A (p.Ala946Thr) 1990760 MedGen:CN169374 2 162267541 162267541 C T 250306 single nucleotide variant NM_022168.3(IFIH1):c.2836G>A (p.Ala946Thr) 1990760 MedGen:CN169374 2 163124051 163124051 C T 250307 single nucleotide variant NM_022168.3(IFIH1):c.2528A>G (p.His843Arg) 3747517 MedGen:CN169374 2 163128824 163128824 T C 250307 single nucleotide variant NM_022168.3(IFIH1):c.2528A>G (p.His843Arg) 3747517 MedGen:CN169374 2 162272314 162272314 T C 250308 single nucleotide variant NM_022168.3(IFIH1):c.2454+4C>T 886038669 MedGen:CN169374 2 162273791 162273791 G A 250308 single nucleotide variant NM_022168.3(IFIH1):c.2454+4C>T 886038669 MedGen:CN169374 2 163130301 163130301 G A 250309 single nucleotide variant NM_022168.3(IFIH1):c.1641+1G>C 35337543 MedGen:CN169374 2 162279995 162279995 C G 250309 single nucleotide variant NM_022168.3(IFIH1):c.1641+1G>C 35337543 MedGen:CN169374 2 163136505 163136505 C G 275325 single nucleotide variant NM_022168.3(IFIH1):c.1166G>A (p.Gly389Glu) 765985079 MedGen:CN169374 2 163139016 163139016 C T 275325 single nucleotide variant NM_022168.3(IFIH1):c.1166G>A (p.Gly389Glu) 765985079 MedGen:CN169374 2 162282506 162282506 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 2 163124051 rs1990760 C T rs1990760 2.00E-11 Type 1 diabetes HPOID:0100651 DOID:9744 C missense GWASdb_trait 2 163124051 rs1990760 C T rs1990760 7.00E-09 Type 1 diabetes HPOID:0100651 DOID:9744 C missense GWASdb_trait 2 163124051 rs1990760 C T rs1990760 7.00E-10 Immunoglobulin A HPOID:0010701 DOID:11701 C missense GWASdb_trait 2 163124051 rs1990760 C T rs1990760 2.00E-14 Type 1 diabetes autoantibodies HPOID:0100651 DOID:9744 C missense GWASdb_trait 2 163124051 rs1990760 C T rs1990760 2.21E-08 Type 1 diabetes HPOID:0100651 DOID:9744 C missense GWASdb_trait 2 163124051 rs1990760 C T rs1990760 2.00E-11 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 missense GWASdb_trait 2 163124051 rs1990760 C T rs1990760 2.55E-04 Vitiligo HPOID:0001045 DOID:12306 C missense GWASdb_trait 2 163128824 rs3747517 T C rs3747517 2.34E-05 Multiple complex diseases HPOID:0000118 NA G missense GWASdb_trait 2 163137983 rs10930046 T C rs10930046 4.68E-05 Neuroticism HPOID:0000563|HPOID:0000545 DOID:2030|DOID:3324|DOID:1307 C missense GWASdb_trait

Disease associated variation - GWAS Central Study Name Source Marker Accession Chromosome Marker Start Marker Stop Alleles Gene Section P-value -log(p-value) GWAS of prostate cancer rs3747517 2 163128824 163128824 exonic 0.951535 0.0215752325715911

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000115267.5 IFIH1 606951