Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 45769 single nucleotide variant FAN1, TRP707TER -1 MedGen:C3553774,OMIM:614817,Orphanet:ORPHA401996 na -1 -1 na na 45770 single nucleotide variant FAN1, IVS2DS, T-A, +2 -1 MedGen:C3553774,OMIM:614817,Orphanet:ORPHA401996 na -1 -1 na na 45771 deletion FAN1, 2-BP DEL, 2036GA -1 MedGen:C3553774,OMIM:614817,Orphanet:ORPHA401996 na -1 -1 na na 45772 single nucleotide variant NM_014967.4(FAN1):c.2245C>T (p.Arg749Ter) 387907279 MedGen:C3553774,OMIM:614817,Orphanet:ORPHA401996 15 31217402 31217402 C T 45772 single nucleotide variant NM_014967.4(FAN1):c.2245C>T (p.Arg749Ter) 387907279 MedGen:C3553774,OMIM:614817,Orphanet:ORPHA401996 15 30925199 30925199 C T 45773 deletion FAN1, 1-BP DEL, 2616A -1 MedGen:C3553774,OMIM:614817,Orphanet:ORPHA401996 na -1 -1 na na 45774 single nucleotide variant FAN1, IVS3DS, G-A, +1 -1 MedGen:C3553774,OMIM:614817,Orphanet:ORPHA401996 na -1 -1 na na 45775 deletion FAN1, 2-BP DEL, 2774TT -1 MedGen:C3553774,OMIM:614817,Orphanet:ORPHA401996 na -1 -1 na na 45776 single nucleotide variant NM_014967.4(FAN1):c.2809G>C (p.Gly937Arg) 387907280 MedGen:C3553774,OMIM:614817,Orphanet:ORPHA401996 15 31222767 31222767 G C 45776 single nucleotide variant NM_014967.4(FAN1):c.2809G>C (p.Gly937Arg) 387907280 MedGen:C3553774,OMIM:614817,Orphanet:ORPHA401996 15 30930564 30930564 G C 188858 single nucleotide variant NM_014967.4(FAN1):c.93T>G (p.Ile31Met) 781134478 MedGen:CN221809 15 31196959 31196959 T G 188858 single nucleotide variant NM_014967.4(FAN1):c.93T>G (p.Ile31Met) 781134478 MedGen:CN221809 15 30904756 30904756 T G 255152 single nucleotide variant NM_014967.4(FAN1):c.698G>A (p.Gly233Glu) 4779794 MedGen:CN169374 15 30905361 30905361 G A 255152 single nucleotide variant NM_014967.4(FAN1):c.698G>A (p.Gly233Glu) 4779794 MedGen:CN169374 15 31197564 31197564 G A 255153 single nucleotide variant NM_014967.4(FAN1):c.3015T>C (p.His1005=) 2955795 MedGen:CN169374 15 30937217 30937217 T C 255153 single nucleotide variant NM_014967.4(FAN1):c.3015T>C (p.His1005=) 2955795 MedGen:CN169374 15 31229420 31229420 T C 360222 single nucleotide variant NM_014967.4(FAN1):c.1090A>C (p.Asn364His) 187082481 MedGen:CN169374 15 30905753 30905753 A C 360222 single nucleotide variant NM_014967.4(FAN1):c.1090A>C (p.Asn364His) 187082481 MedGen:CN169374 15 31197956 31197956 A 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 15 31197564 rs4779794 G A rs4779794 1.03E-05 HYDROCORTISONE NA Cortisol secretion, in saliva HPOID:0011731 DOID:1596 G missense GWASdb_drug 15 31198972 rs16956362 A G rs16956362 8.33E-05 CAFFEINE CYTOCHROME P-450 CYP1A2|RECEPTORS, ARYL HYDROCARBON Caffeine consumption HPOID:0000707 NA A intron GWASdb_drug 15 31210651 rs2293314 A G rs2293314 1.76E-05 HYDROCORTISONE NA Cortisol secretion, in saliva HPOID:0011731 DOID:1596 A intron GWASdb_drug 15 31197564 rs4779794 G A rs4779794 9.47E-05 Non-alcoholic fatty liver disease histology (other) HPOID:0001397|HPOID:0006561 DOID:9452 G missense GWASdb_trait 15 31197564 rs4779794 G A rs4779794 1.03E-05 Cortisol secretion, in saliva HPOID:0011731 DOID:1596 G missense GWASdb_trait 15 31198972 rs16956362 A G rs16956362 8.33E-05 Caffeine consumption HPOID:0000707 NA A intron GWASdb_trait 15 31210651 rs2293314 A G rs2293314 1.76E-05 Cortisol secretion, in saliva HPOID:0011731 DOID:1596 A intron GWASdb_trait 15 31215935 rs7178375 C T rs7178375 6.00E-06 Hypertriglyceridemia HPOID:0002155 DOID:0050527 C intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000198690.9 FAN1 613534