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 3 46449864 rs6808835 G T rs34045601 0.000998 METHIONINE CASPASE 1|CASPASE 9|CASP9 PROTEIN, HUMAN|5'-METHYLTHIOADENOSINE|APIP PROTEIN, HUMAN|DEOXYADENOSINES|THIONUCLEOSIDES|APOPTOSIS REGULATORY PROTEINS Salmonella-induced pyroptosis NA NA T cds-synon GWASdb_drug 3 46450072 rs6441977 G A rs6441977 0.000258 METHIONINE CASPASE 1|CASPASE 9|CASP9 PROTEIN, HUMAN|5'-METHYLTHIOADENOSINE|APIP PROTEIN, HUMAN|DEOXYADENOSINES|THIONUCLEOSIDES|APOPTOSIS REGULATORY PROTEINS Salmonella-induced pyroptosis NA NA G missense GWASdb_drug 3 46449864 rs6808835 G T rs6808835 6.73E-05 HIV-1 control HPOID:0002721 DOID:526 T cds-synon GWASdb_trait 3 46449864 rs6808835 G T rs6808835 2.80E-04 Urinary metabolites HPOID:0000079 DOID:557 T cds-synon GWASdb_trait 3 46450072 rs6441977 G A rs6441977 2.07E-05 HIV-1 control HPOID:0002721 DOID:526 G missense GWASdb_trait 3 46450072 rs6441977 G A rs6441977 9.80E-05 Urinary metabolites HPOID:0000079 DOID:557 G missense GWASdb_trait 3 46450072 rs6441977 G A rs6441977 0.000258 Salmonella-induced pyroptosis NA NA G missense GWASdb_trait 6 167526506 rs1015077 A G rs1015077 9.19E-04 Type 2 diabetes HPOID:0005978 DOID:9352 G intron GWASdb_trait 6 167532793 rs3093024 A G rs3093024 8.00E-19 Rheumatoid arthritis HPOID:0001370 DOID:7148 A intron GWASdb_trait 6 167532793 rs3093024 A G rs3093024 9.43E-05 Non-alcoholic fatty liver disease histology (other) HPOID:0001397|HPOID:0006561 DOID:9452 A intron GWASdb_trait 6 167532793 rs3093024 A G rs3093024 8.60E-07 Rheumatoid arthritis HPOID:0001370 DOID:7148 A intron GWASdb_trait 6 167533062 rs1854853 A G rs1854853 2.00E-10 Rheumatoid arthritis HPOID:0001370 DOID:7148 A intron GWASdb_trait 6 167533062 rs1854853 A G rs1854853 7.00E-15 Rheumatoid arthritis HPOID:0001370 DOID:7148 A intron GWASdb_trait 6 167534290 rs3093023 G A rs3093023 2.00E-11 Rheumatoid arthritis HPOID:0001370 DOID:7148 A,G intron GWASdb_trait 6 167534290 rs3093023 G A rs3093023 1.50E-11 Celiac disease and Rheumatoid arthritis HPOID:0001438|HPOID:0001370 DOID:10608|DOID:7148 A,G intron GWASdb_trait 6 167534290 rs3093023 G A rs3093023 1.50E-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 A,G intron GWASdb_trait 6 167534290 rs3093023 G A rs3093023 5.70E-07 Rheumatoid arthritis HPOID:0001370 DOID:7148 A,G intron GWASdb_trait 6 167534290 rs3093023 G A rs3093023 4.00E-09 Rheumatoid arthritis HPOID:0001370 DOID:7148 A,G intron GWASdb_trait 6 167537594 rs1855025 A G rs1855025 3.40E-08 Rheumatoid arthritis HPOID:0001370 DOID:7148 T intron GWASdb_trait 6 167537754 rs59466457 A G rs59466457 2.70E-10 Rheumatoid arthritis HPOID:0001370 DOID:7148 A intron GWASdb_trait 6 167537754 rs59466457 A G rs59466457 2.74E-10 Rheumatoid arthritis (CCP positive) HPOID:0001370 DOID:7148 A intron GWASdb_trait 6 167540842 rs1571878 C T rs1571878 1.23E-12 Rheumatoid arthritis (CCP positive) HPOID:0001370 DOID:7148 T intron GWASdb_trait 6 167540842 rs1571878 C T rs1571878 2.29E-08 Rheumatoid arthritis HPOID:0001370 DOID:7148 T intron GWASdb_trait 6 167540842 rs1571878 C T rs1571878 1.00E-22 Rheumatoid arthritis HPOID:0001370 DOID:7148 T intron GWASdb_trait 6 167540842 rs1571878 C T rs1571878 2.00E-18 Rheumatoid arthritis HPOID:0001370 DOID:7148 T intron GWASdb_trait 6 167540842 rs1571878 C T rs1571878 5.00E-35 Rheumatoid arthritis HPOID:0001370 DOID:7148 T intron GWASdb_trait 6 167548547 rs62436827 A G rs62436827 6.88E-06 Triglycerides HPOID:0003119 DOID:3393|DOID:3146|DOID:2349 A intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000121797.9 CCRL2 608379