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 12 130939908 rs2048777 G A rs2048777 5.43E-05 METHOTREXATE POLYGLUTAMIC ACID|ANTIMETABOLITES, ANTINEOPLASTIC|DOPA DECARBOXYLASE|MKL1 PROTEIN, HUMAN|IKAROS TRANSCRIPTION FACTOR|ARID5B PROTEIN, HUMAN|TRANSCRIPTION FACTORS|IKZF1 PROTEIN, HUMAN|ONCOGENE PROTEINS, FUSION|DNA-BINDING PROTEINS Acute lymphoblastic leukemia (childhood) HPOID:0006721 DOID:9952|DOID:12603 G intron GWASdb_drug 3 139175797 rs6439860 T C rs6439860 7.46E-05 Schizophrenia(age at onset) HPOID:0100753 DOID:5419 C intron GWASdb_trait 3 139175972 rs6439863 G T rs6439863 2.85E-04 Type 2 diabetes HPOID:0005978 DOID:9352 G intron GWASdb_trait 3 139177585 rs6771831 G A rs6771831 6.10E-05 Schizophrenia(age at onset) HPOID:0100753 DOID:5419 A intron GWASdb_trait 3 139184279 rs16849083 C T rs16849083 2.19E-05 Kawasaki disease HPOID:0001677 DOID:13378 C intron GWASdb_trait 3 139188118 rs3772875 A G rs3772875 2.78E-04 Type 2 diabetes HPOID:0005978 DOID:9352 T intron GWASdb_trait 3 139194921 rs2278577 C T rs2278577 2.85E-04 Type 2 diabetes HPOID:0005978 DOID:9352 G intron GWASdb_trait 12 130888094 rs10773776 T C rs10773776 9.56E-04 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait 12 130893588 rs7304899 A G rs7304899 8.85E-05 Adverse response to chemotherapy (neutropenia/leucopenia) (5-fluorouracil) HPOID:0001875|HPOID:0001882 DOID:1227 G intron GWASdb_trait 12 130895518 rs11609204 C T rs11609204 6.26E-05 Brain derived neurotrophic factor levels, in serum HPOID:0000716 DOID:1596 C intron GWASdb_trait 12 130895719 rs10848096 T G rs10848096 3.95E-05 Brain derived neurotrophic factor levels, in serum HPOID:0000716 DOID:1596 T intron GWASdb_trait 12 130897323 rs11060869 C T rs11060869 0.00064 Prostate cancer (non-advanced prostate cancer) NA NA C missense GWASdb_trait 12 130897752 rs11060870 C T rs11060870 9.76E-05 Brain derived neurotrophic factor levels, in serum HPOID:0000716 DOID:1596 C intron GWASdb_trait 12 130898414 rs11060872 C T rs11060872 2.89E-04 Multiple complex diseases HPOID:0000118 NA C intron GWASdb_trait 12 130900815 rs7295851 G A rs7295851 8.55E-05 Multiple complex diseases HPOID:0000118 NA A intron GWASdb_trait 12 130904400 rs11060883 A G rs11060883 8.03E-04 Nicotine smoking HPOID:0000707 DOID:0050742 A intron GWASdb_trait 12 130904400 rs11060883 A G rs11060883 2.45E-04 Lung function (forced vital capacity) HPOID:0002088 DOID:850 A intron GWASdb_trait 12 130921664 rs2292664 G C rs2292664 1.40E-37 Health and aging, CVD and cancer age of onset HPOID:0002664|HPOID:0001626 DOID:1287|DOID:162 G missense GWASdb_trait 12 130921664 rs2292664 G C rs2292664 1.70E-07 Health and aging, CVD and cancer age of onset HPOID:0002664|HPOID:0001626 DOID:1287|DOID:162 G missense GWASdb_trait 12 130921664 rs2292664 G C rs2292664 2.00E-25 Health and aging, CVD and cancer age of onset HPOID:0002664|HPOID:0001626 DOID:1287|DOID:162 G missense GWASdb_trait 12 130921664 rs2292664 G C rs2292664 3.30E-19 Health and aging, CVD and cancer age of onset HPOID:0002664|HPOID:0001626 DOID:1287|DOID:162 G missense GWASdb_trait 12 130921664 rs2292664 G C rs2292664 3.80E-13 Health and aging, CVD and cancer age of onset HPOID:0002664|HPOID:0001626 DOID:1287|DOID:162 G missense GWASdb_trait 12 130921664 rs2292664 G C rs2292664 6.00E-11 Health and aging, CVD and cancer age of onset HPOID:0002664|HPOID:0001626 DOID:1287|DOID:162 G missense GWASdb_trait 12 130921664 rs2292664 G C rs2292664 6.80E-14 Health and aging, CVD and cancer age of onset HPOID:0002664|HPOID:0001626 DOID:1287|DOID:162 G missense GWASdb_trait 12 130937122 rs11060895 A G rs11060895 1.10E-06 Urinary metabolites HPOID:0000079 DOID:557 G intron GWASdb_trait 12 130937649 rs7298078 A G rs7298078 1.20E-05 Urinary metabolites HPOID:0000079 DOID:557 A intron GWASdb_trait 12 130939564 rs11060898 G T rs11060898 1.20E-05 Urinary metabolites HPOID:0000079 DOID:557 G intron GWASdb_trait 12 130939908 rs2048777 G A rs2048777 5.43E-05 Acute lymphoblastic leukemia (childhood) HPOID:0006721 DOID:9952|DOID:12603 G intron GWASdb_trait 12 130952209 rs6486542 C T rs6486542 7.73E-04 Amyotrophic Lateral Sclerosis HPOID:0007354 DOID:332 C intron GWASdb_trait 12 130952454 rs10161112 G T rs10161112 4.05E-05 Duodenal ulcer HPOID:0002588 DOID:1724 G intron GWASdb_trait 12 130962191 rs884255 C A rs884255 9.65E-04 Type 2 diabetes HPOID:0005978 DOID:9352 T intron GWASdb_trait 12 130979355 rs10848114 C T rs10848114 4.75E-06 Hearing function HPOID:0000365 DOID:2742 C intron GWASdb_trait 12 130981617 rs2048779 A C rs2048779 4.05E-05 Alcohol consumption HPOID:0000707 DOID:1574|DOID:0050741 T intron GWASdb_trait 12 130995411 rs12425226 G C rs12425226 2.21E-04 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000060709.14 RIMBP2 611602