Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 108676 single nucleotide variant NM_006092.2(NOD1):c.-585G>C 199475895 MedGen:CN221809 7 30518455 30518455 C G 108676 single nucleotide variant NM_006092.2(NOD1):c.-585G>C 199475895 MedGen:CN221809 7 30478839 30478839 C G 108677 single nucleotide variant NM_006092.2(NOD1):c.-665G>A 199475894 MedGen:CN221809 7 30518535 30518535 C T 108677 single nucleotide variant NM_006092.2(NOD1):c.-665G>A 199475894 MedGen:CN221809 7 30478919 30478919 C T 108678 single nucleotide variant NM_006092.2(NOD1):c.-1152C>T 199475893 MedGen:CN221809 7 30519022 30519022 G A 108678 single nucleotide variant NM_006092.2(NOD1):c.-1152C>T 199475893 MedGen:CN221809 7 30479406 30479406 G A 108821 single nucleotide variant NM_006092.2(NOD1):c.-121-85G>C 199476262 MedGen:CN221809 7 30496743 30496743 C G 108821 single nucleotide variant NM_006092.2(NOD1):c.-121-85G>C 199476262 MedGen:CN221809 7 30457127 30457127 C G 108822 single nucleotide variant NM_006092.2(NOD1):c.-211+198G>A 199476261 MedGen:CN221809 7 30499319 30499319 C T 108822 single nucleotide variant NM_006092.2(NOD1):c.-211+198G>A 199476261 MedGen:CN221809 7 30459703 30459703 C T 108823 single nucleotide variant NM_006092.2(NOD1):c.-234G>A 199475896 MedGen:CN221809 7 30499540 30499540 C T 108823 single nucleotide variant NM_006092.2(NOD1):c.-234G>A 199475896 MedGen:CN221809 7 30459924 30459924 C T 108824 single nucleotide variant NM_006092.2(NOD1):c.1369C>T (p.Arg457Trp) 199475900 MedGen:CN221809 7 30491664 30491664 G A 108824 single nucleotide variant NM_006092.2(NOD1):c.1369C>T (p.Arg457Trp) 199475900 MedGen:CN221809 7 30452048 30452048 G A 108825 single nucleotide variant NM_006092.2(NOD1):c.1423C>T (p.Leu475Phe) 199475901 MedGen:CN221809 7 30491610 30491610 G A 108825 single nucleotide variant NM_006092.2(NOD1):c.1423C>T (p.Leu475Phe) 199475901 MedGen:CN221809 7 30451994 30451994 G A 108826 single nucleotide variant NM_006092.2(NOD1):c.1458C>T (p.Ser486=) 199475902 MedGen:CN221809 7 30491575 30491575 G A 108826 single nucleotide variant NM_006092.2(NOD1):c.1458C>T (p.Ser486=) 199475902 MedGen:CN221809 7 30451959 30451959 G A 108827 deletion NM_006092.2(NOD1):c.1492delC (p.Leu498Cysfs) 199476263 MedGen:CN221809 7 30491541 30491541 G - 108827 deletion NM_006092.2(NOD1):c.1492delC (p.Leu498Cysfs) 199476263 MedGen:CN221809 7 30451925 30451925 G - 108828 single nucleotide variant NM_006092.2(NOD1):c.2080G>A (p.Ala694Thr) 199475903 MedGen:CN221809 7 30490953 30490953 C T 108828 single nucleotide variant NM_006092.2(NOD1):c.2080G>A (p.Ala694Thr) 199475903 MedGen:CN221809 7 30451337 30451337 C T 108829 single nucleotide variant NM_006092.2(NOD1):c.2201+36C>T 199476264 MedGen:CN221809 7 30490796 30490796 G A 108829 single nucleotide variant NM_006092.2(NOD1):c.2201+36C>T 199476264 MedGen:CN221809 7 30451180 30451180 G A 108830 single nucleotide variant NM_006092.2(NOD1):c.2202-27C>T 199476265 MedGen:CN221809 7 30488024 30488024 G A 108830 single nucleotide variant NM_006092.2(NOD1):c.2202-27C>T 199476265 MedGen:CN221809 7 30448408 30448408 G A 108831 single nucleotide variant NM_006092.2(NOD1):c.2285+112G>A 199476268 MedGen:CN221809 7 30487802 30487802 C T 108831 single nucleotide variant NM_006092.2(NOD1):c.2285+112G>A 199476268 MedGen:CN221809 7 30448186 30448186 C T 108832 single nucleotide variant NM_006092.2(NOD1):c.2285+118C>T 199476269 MedGen:CN221809 7 30487796 30487796 G A 108832 single nucleotide variant NM_006092.2(NOD1):c.2285+118C>T 199476269 MedGen:CN221809 7 30448180 30448180 G A 108833 single nucleotide variant NM_006092.2(NOD1):c.2285+220T>A 199476270 MedGen:CN221809 7 30487694 30487694 A T 108833 single nucleotide variant NM_006092.2(NOD1):c.2285+220T>A 199476270 MedGen:CN221809 7 30448078 30448078 A T 108834 single nucleotide variant NM_006092.2(NOD1):c.2285+31T>C 199476266 MedGen:CN221809 7 30487883 30487883 A G 108834 single nucleotide variant NM_006092.2(NOD1):c.2285+31T>C 199476266 MedGen:CN221809 7 30448267 30448267 A G 108835 single nucleotide variant NM_006092.2(NOD1):c.2285+372T>A 199475904 MedGen:CN221809 7 30487542 30487542 A T 108835 single nucleotide variant NM_006092.2(NOD1):c.2285+372T>A 199475904 MedGen:CN221809 7 30447926 30447926 A T 108836 single nucleotide variant NM_006092.2(NOD1):c.2285+90G>A 199476267 MedGen:CN221809 7 30487824 30487824 C T 108836 single nucleotide variant NM_006092.2(NOD1):c.2285+90G>A 199476267 MedGen:CN221809 7 30448208 30448208 C T 108837 single nucleotide variant NM_006092.2(NOD1):c.2454-116G>C 199476271 MedGen:CN221809 7 30477388 30477388 C G 108837 single nucleotide variant NM_006092.2(NOD1):c.2454-116G>C 199476271 MedGen:CN221809 7 30437772 30437772 C G 108838 single nucleotide variant NM_006092.2(NOD1):c.2537+169A>C 199476273 MedGen:CN221809 7 30477020 30477020 T G 108838 single nucleotide variant NM_006092.2(NOD1):c.2537+169A>C 199476273 MedGen:CN221809 7 30437404 30437404 T G 108839 single nucleotide variant NM_006092.2(NOD1):c.2537+344C>G 199476274 MedGen:CN221809 7 30476845 30476845 G C 108839 single nucleotide variant NM_006092.2(NOD1):c.2537+344C>G 199476274 MedGen:CN221809 7 30437229 30437229 G C 108840 single nucleotide variant NM_006092.2(NOD1):c.2537+394T>A 199476275 MedGen:CN221809 7 30476795 30476795 A T 108840 single nucleotide variant NM_006092.2(NOD1):c.2537+394T>A 199476275 MedGen:CN221809 7 30437179 30437179 A T 108841 single nucleotide variant NM_006092.2(NOD1):c.2537+81G>A 199476272 MedGen:CN221809 7 30477108 30477108 C T 108841 single nucleotide variant NM_006092.2(NOD1):c.2537+81G>A 199476272 MedGen:CN221809 7 30437492 30437492 C T 108842 single nucleotide variant NM_006092.2(NOD1):c.254T>A (p.Phe85Tyr) 199475897 MedGen:CN221809 7 30494875 30494875 A T 108842 single nucleotide variant NM_006092.2(NOD1):c.254T>A (p.Phe85Tyr) 199475897 MedGen:CN221809 7 30455259 30455259 A T 108843 single nucleotide variant NM_006092.2(NOD1):c.2697G>C (p.Lys899Asn) 199475905 MedGen:CN221809 7 30472720 30472720 C G 108843 single nucleotide variant NM_006092.2(NOD1):c.2697G>C (p.Lys899Asn) 199475905 MedGen:CN221809 7 30433104 30433104 C G 108844 single nucleotide variant NM_006092.2(NOD1):c.285T>C (p.Asp95=) 199475898 MedGen:CN221809 7 30494844 30494844 A G 108844 single nucleotide variant NM_006092.2(NOD1):c.285T>C (p.Asp95=) 199475898 MedGen:CN221809 7 30455228 30455228 A G 108845 single nucleotide variant NM_006092.2(NOD1):c.375A>G (p.Pro125=) 199475899 MedGen:CN221809 7 30494754 30494754 T C 108845 single nucleotide variant NM_006092.2(NOD1):c.375A>G (p.Pro125=) 199475899 MedGen:CN221809 7 30455138 30455138 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 7 30491693 rs2975634 C T rs2975634 0.00000011 HDL cholesterol HPOID:0003107 DOID:14502|DOID:1461|DOID:3393 G missense GWASdb_trait 7 30491693 rs2975634 C T rs2975634 6.75E-08 Cholesterol, total HPOID:0003107 DOID:3393|DOID:3146|DOID:2349 G missense GWASdb_trait 7 30499575 rs2906766 T C rs2906766 1.09E-05 C-Reactive Protein HPOID:0010876 DOID:14221|DOID:9352|DOID:10763|DOID:5844 T UTR-5 GWASdb_trait 7 30503363 rs1558068 A T rs1558068 7.41E-05 Diabetic retinopathy HPOID:0000819|HPOID:0000488 DOID:8947 T intron GWASdb_trait 7 30511949 rs2037955 C A rs2037955 8.75E-04 Alcohol dependence HPOID:0000707 DOID:0050741 G intron GWASdb_trait 7 30513159 rs932272 G A rs932272 3.02E-05 C-Reactive Protein HPOID:0010876 DOID:14221|DOID:9352|DOID:10763|DOID:5844 T intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000106100.10 NOD1 605980