Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 39100 single nucleotide variant MAP3K1, IVS2AS, T-A, -8 -1 MedGen:C3151064,OMIM:613762 na -1 -1 na na 39101 single nucleotide variant MAP3K1, GLY616ARG -1 MedGen:C3151064,OMIM:613762 na -1 -1 na na 39102 single nucleotide variant NM_005921.1(MAP3K1):c.566T>C (p.Leu189Pro) 387906788 MedGen:C3151064,OMIM:613762 5 56152510 56152510 T C 39102 single nucleotide variant NM_005921.1(MAP3K1):c.566T>C (p.Leu189Pro) 387906788 MedGen:C3151064,OMIM:613762 5 56856683 56856683 T C 39103 single nucleotide variant NM_005921.1(MAP3K1):c.566T>G (p.Leu189Arg) 387906788 MedGen:C3151064,OMIM:613762 5 56152510 56152510 T G 39103 single nucleotide variant NM_005921.1(MAP3K1):c.566T>G (p.Leu189Arg) 387906788 MedGen:C3151064,OMIM:613762 5 56856683 56856683 T G 213561 single nucleotide variant NM_005921.1(MAP3K1):c.770C>T (p.Pro257Leu) 56160159 MedGen:C3151064,OMIM:613762 5 56859851 56859851 C T 213561 single nucleotide variant NM_005921.1(MAP3K1):c.770C>T (p.Pro257Leu) 56160159 MedGen:C3151064,OMIM:613762 5 56155678 56155678 C T 223622 single nucleotide variant NM_005921.1(MAP3K1):c.1420A>G (p.Ile474Val) 869025263 MedGen:CN235161 5 56872028 56872028 A G 223622 single nucleotide variant NM_005921.1(MAP3K1):c.1420A>G (p.Ile474Val) 869025263 MedGen:CN235161 5 56167855 56167855 A G 246988 single nucleotide variant NM_005921.1(MAP3K1):c.710A>G (p.Gln237Arg) 55694258 MedGen:CN169374 5 56859791 56859791 A G 246988 single nucleotide variant NM_005921.1(MAP3K1):c.710A>G (p.Gln237Arg) 55694258 MedGen:CN169374 5 56155618 56155618 A G 263526 single nucleotide variant NM_005921.1(MAP3K1):c.1923G>A (p.Met641Ile) 886041049 MedGen:C3151064,OMIM:613762 5 56875268 56875268 G A 263526 single nucleotide variant NM_005921.1(MAP3K1):c.1923G>A (p.Met641Ile) 886041049 MedGen:C3151064,OMIM:613762 5 56171095 56171095 G A

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 5 56161787 rs832575 G A rs832575 7.20E-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 cds-synon GWASdb_drug 5 56109154 rs11960484 A G rs11960484 2.45E-05 Serum metabolites HPOID:0011111 NA A nearGene-5 GWASdb_trait 5 56109154 rs11960484 A G rs11960484 1.08E-12 Breast cancer (early onset) HPOID:0003002 DOID:1612 A nearGene-5 GWASdb_trait 5 56113850 rs832552 G T rs832552 0.000087 Coronary artery calcification HPOID:0001677 DOID:3393 G intron GWASdb_trait 5 56113850 rs832552 G T rs832552 1.11E-12 Breast cancer (early onset) HPOID:0003002 DOID:1612 G intron GWASdb_trait 5 56114526 rs702691 T G rs702691 8.67E-13 Breast cancer (early onset) HPOID:0003002 DOID:1612 A intron GWASdb_trait 5 56118875 rs252905 G A rs252905 1.26E-05 Serum metabolites HPOID:0011111 NA G intron GWASdb_trait 5 56118875 rs252905 G A rs252905 9.22E-13 Breast cancer (early onset) HPOID:0003002 DOID:1612 G intron GWASdb_trait 5 56119190 rs252906 C A rs252906 1.71E-05 Serum metabolites HPOID:0011111 NA C intron GWASdb_trait 5 56119190 rs252906 C A rs252906 1.07E-12 Breast cancer (early onset) HPOID:0003002 DOID:1612 C intron GWASdb_trait 5 56122344 rs16886364 A G rs16886364 5.00E-12 Breast cancer (early onset) HPOID:0003002 DOID:1612 A intron GWASdb_trait 5 56124111 rs252919 T C rs252919 1.20E-06 Type 2 diabetes HPOID:0005978 DOID:9352 C intron GWASdb_trait 5 56125353 rs866223 A G rs866223 0.00018 Coronary artery calcification HPOID:0001677 DOID:3393 A intron GWASdb_trait 5 56125904 rs832585 T C rs832585 1.04E-12 Breast cancer (early onset) HPOID:0003002 DOID:1612 T intron GWASdb_trait 5 56134276 rs16886397 A G rs16886397 4.00E-12 Breast cancer (early onset) HPOID:0003002 DOID:1612 A intron GWASdb_trait 5 56149429 rs860580 T G rs860580 4.86E-07 Lymphocyte counts HPOID:0004332|HPOID:0002665 DOID:2841|DOID:1240|DOID:0060058|DOID:614|DOID:1287 T intron GWASdb_trait 5 56151744 rs832566 G A rs832566 1.80E-05 Serum metabolites HPOID:0011111 NA G intron GWASdb_trait 5 56151744 rs832566 G A rs832566 1.06E-12 Breast cancer (early onset) HPOID:0003002 DOID:1612 G intron GWASdb_trait 5 56153392 rs1017226 T C rs1017226 6.00E-11 Breast cancer (early onset) HPOID:0003002 DOID:1612 T intron GWASdb_trait 5 56161787 rs832575 G A rs832575 7.20E-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 cds-synon GWASdb_trait 5 56163787 rs832577 G A rs832577 0.00036 Coronary artery calcification HPOID:0001677 DOID:3393 G intron GWASdb_trait 5 56163787 rs832577 G A rs832577 1.82E-12 Breast cancer (early onset) HPOID:0003002 DOID:1612 G intron GWASdb_trait 5 56166028 rs16886445 A G rs16886445 3.20E-04 Type 2 diabetes HPOID:0005978 DOID:9352 A intron GWASdb_trait 5 56166028 rs16886445 A G rs16886445 4.70E-05 White matter hyperintensity burden HPOID:0007103|HPOID:0002637 DOID:936|DOID:2316|DOID:3527 A intron GWASdb_trait 5 56166028 rs16886445 A G rs16886445 5.40E-04 Type 2 diabetes HPOID:0005978 DOID:9352 A intron GWASdb_trait 5 56168712 rs2229882 C T rs2229882 3.80E-04 Alcohol dependence HPOID:0000707 DOID:0050741 C cds-synon GWASdb_trait 5 56168712 rs2229882 C T rs2229882 5.40E-04 Alcohol dependence HPOID:0000707 DOID:0050741 C cds-synon GWASdb_trait 5 56168712 rs2229882 C T rs2229882 1.00E-14 Breast cancer (early onset) HPOID:0003002 DOID:1612 C cds-synon GWASdb_trait 5 56168712 rs2229882 C T rs2229882 1.02E-14 Breast cancer (early onset) HPOID:0003002 DOID:1612 C cds-synon GWASdb_trait 5 56170813 rs16886448 C G rs16886448 2.00E-12 Breast cancer (early onset) HPOID:0003002 DOID:1612 C intron GWASdb_trait 5 56177743 rs832582 G A rs832582 1.70E-06 Type 2 diabetes HPOID:0005978 DOID:9352 A missense GWASdb_trait 5 56178111 rs3822625 A G rs3822625 5.00E-12 Breast cancer (early onset) HPOID:0003002 DOID:1612 T cds-synon GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000095015.5 MAP3K1 600982