Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 104262 single nucleotide variant NM_002037.5(FYN):c.1347G>A (p.Val449=) 367543106 MedGen:CN221809 6 111995760 111995760 C T 104262 single nucleotide variant NM_002037.5(FYN):c.1347G>A (p.Val449=) 367543106 MedGen:CN221809 6 111674557 111674557 C T 104263 single nucleotide variant NM_002037.5(FYN):c.984G>A (p.Gln328=) 367543107 MedGen:CN221809 6 112017538 112017538 C T 104263 single nucleotide variant NM_002037.5(FYN):c.984G>A (p.Gln328=) 367543107 MedGen:CN221809 6 111696335 111696335 C T 104264 single nucleotide variant NM_002037.5(FYN):c.944C>G (p.Ala315Gly) 367543108 MedGen:CN221809 6 112017578 112017578 G C 104264 single nucleotide variant NM_002037.5(FYN):c.944C>G (p.Ala315Gly) 367543108 MedGen:CN221809 6 111696375 111696375 G C 104265 single nucleotide variant NM_153047.3(FYN):c.794G>A (p.Arg265His) 367543109 MedGen:CN221809 6 112020777 112020777 C T 104265 single nucleotide variant NM_153047.3(FYN):c.794G>A (p.Arg265His) 367543109 MedGen:CN221809 6 111699574 111699574 C T 104266 single nucleotide variant NM_002037.5(FYN):c.573T>C (p.Asp191=) 367543110 MedGen:CN221809 6 112024212 112024212 A G 104266 single nucleotide variant NM_002037.5(FYN):c.573T>C (p.Asp191=) 367543110 MedGen:CN221809 6 111703009 111703009 A G 104267 single nucleotide variant NM_002037.5(FYN):c.333A>G (p.Ile111Met) 367543111 MedGen:CN221809 6 112035561 112035561 T C 104267 single nucleotide variant NM_002037.5(FYN):c.333A>G (p.Ile111Met) 367543111 MedGen:CN221809 6 111714358 111714358 T 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 6 111991321 rs6919400 T C rs6919400 7.64E-04 ALDOSTERONE BIOLOGICAL MARKERS|NATRIURETIC PEPTIDE, BRAIN|RENIN Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption) HPOID:0011025 DOID:10763 C intron GWASdb_drug 6 111992827 rs2237255 C T rs2237255 1.14E-04 ATORVASTATIN SERINE ENDOPEPTIDASES|PYRROLES|PCSK9 PROTEIN, HUMAN|HEPTANOIC ACIDS|APOLIPOPROTEINS E|PROPROTEIN CONVERTASES Response to statin treatment (atorvastatin), change in cholesterol levels HPOID:0001626 DOID:1287 C intron GWASdb_drug 6 111999020 rs2344706 A T rs2344706 5.94E-04 ATORVASTATIN SERINE ENDOPEPTIDASES|PYRROLES|PCSK9 PROTEIN, HUMAN|HEPTANOIC ACIDS|APOLIPOPROTEINS E|PROPROTEIN CONVERTASES Response to statin treatment (atorvastatin), change in cholesterol levels HPOID:0001626 DOID:1287 T intron GWASdb_drug 6 112009325 rs11153311 A G rs11153311 1.84E-04 ALDOSTERONE BIOLOGICAL MARKERS|NATRIURETIC PEPTIDE, BRAIN|RENIN Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption) HPOID:0011025 DOID:10763 A intron GWASdb_drug 6 111983818 rs9320374 A G rs9320374 2.90E-05 Breast cancer HPOID:0003002 DOID:1612 A intron GWASdb_trait 6 111991321 rs6919400 T C rs6919400 7.64E-04 Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption) HPOID:0011025 DOID:10763 C intron GWASdb_trait 6 111992827 rs2237255 C T rs2237255 1.14E-04 Response to statin treatment (atorvastatin), change in cholesterol levels HPOID:0001626 DOID:1287 C intron GWASdb_trait 6 111996419 rs9374274 G A rs9374274 4.62E-05 Coronary heart disease HPOID:0001677 DOID:3393 G intron GWASdb_trait 6 111996419 rs9374274 G A rs9374274 5.80E-06 Insulin Resistance HPOID:0000855 DOID:9352 G intron GWASdb_trait 6 111996419 rs9374274 G A rs9374274 2.29E-05 Insulin-related traits HPOID:0011014 DOID:9352 G intron GWASdb_trait 6 111999020 rs2344706 A T rs2344706 5.94E-04 Response to statin treatment (atorvastatin), change in cholesterol levels HPOID:0001626 DOID:1287 T intron GWASdb_trait 6 112000162 rs7746279 G A rs7746279 4.99E-05 Coronary heart disease HPOID:0001677 DOID:3393 G intron GWASdb_trait 6 112000162 rs7746279 G A rs7746279 1.35E-05 Insulin Resistance HPOID:0000855 DOID:9352 G intron GWASdb_trait 6 112000162 rs7746279 G A rs7746279 5.61E-05 Insulin-related traits HPOID:0011014 DOID:9352 G intron GWASdb_trait 6 112006549 rs2237259 C T rs2237259 3.31E-05 Waist-Hip Ratio HPOID:0001513 DOID:9970 C intron GWASdb_trait 6 112006549 rs2237259 C T rs2237259 8.79E-05 Coronary heart disease HPOID:0001677 DOID:3393 C intron GWASdb_trait 6 112006549 rs2237259 C T rs2237259 4.49E-06 Insulin Resistance HPOID:0000855 DOID:9352 C intron GWASdb_trait 6 112006549 rs2237259 C T rs2237259 2.24E-05 Insulin-related traits HPOID:0011014 DOID:9352 C intron GWASdb_trait 6 112006995 rs1998038 C T rs1998038 3.31E-05 Waist-Hip Ratio HPOID:0001513 DOID:9970 C intron GWASdb_trait 6 112006995 rs1998038 C T rs1998038 8.79E-05 Coronary heart disease HPOID:0001677 DOID:3393 C intron GWASdb_trait 6 112006995 rs1998038 C T rs1998038 4.49E-06 Insulin Resistance HPOID:0000855 DOID:9352 C intron GWASdb_trait 6 112006995 rs1998038 C T rs1998038 2.24E-05 Insulin-related traits HPOID:0011014 DOID:9352 C intron GWASdb_trait 6 112009325 rs11153311 A G rs11153311 1.84E-04 Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption) HPOID:0011025 DOID:10763 A intron GWASdb_trait 6 112020414 rs809193 T C rs809193 2.34E-04 Parkinson's disease HPOID:0001300 DOID:14330 G intron GWASdb_trait 6 112023493 rs1726124 T A rs1726124 4.42E-04 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait 6 112038640 rs706892 C G rs706892 9.57E-04 Multiple complex diseases HPOID:0000118 NA C intron GWASdb_trait 6 112043118 rs1740377 C A rs1740377 2.74E-04 Parkinson's disease HPOID:0001300 DOID:14330 A intron GWASdb_trait 6 112043133 rs1726113 C A rs1726113 2.95E-04 Parkinson's disease HPOID:0001300 DOID:14330 A intron GWASdb_trait 6 112046409 rs706907 G C rs706907 1.28E-04 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait 6 112049045 rs7746471 T C rs7746471 9.63E-05 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait 6 112053105 rs697642 G A rs697642 2.20E-05 Urinary metabolites HPOID:0000079 DOID:557 G intron GWASdb_trait 6 112063482 rs6930230 T C rs6930230 8.00E-05 Systolic blood pressure HPOID:0011025 DOID:10763 C intron GWASdb_trait 6 112122226 rs2148710 C T rs2148710 3.00E-08 Anger HPOID:0100851 DOID:1510 T intron GWASdb_trait 6 112175517 rs9487737 C T rs9487737 7.26E-04 Endometrial cancer HPOID:0012114 DOID:1380 C intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000010810.17 FYN 137025