Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 225814 single nucleotide variant NM_015678.4(NBEA):c.2836C>T (p.His946Tyr) 869312667 MedGen:CN169374 13 35157262 35157262 C T 225814 single nucleotide variant NM_015678.4(NBEA):c.2836C>T (p.His946Tyr) 869312667 MedGen:CN169374 13 35731399 35731399 C T 237538 single nucleotide variant NM_001204197.1(NBEA):c.16C>T (p.Arg6Ter) 878853169 Human Phenotype Ontology:HP:0000750,MedGen:CN000706;MedGen:CN236729;Human Phenotype Ontology:HP:0001250,MedGen:C1959629 13 36124665 36124665 C T 237538 single nucleotide variant NM_001204197.1(NBEA):c.16C>T (p.Arg6Ter) 878853169 Human Phenotype Ontology:HP:0000750,MedGen:CN000706;MedGen:CN236729;Human Phenotype Ontology:HP:0001250,MedGen:C1959629 13 35550528 35550528 C T 247088 single nucleotide variant NM_015678.4(NBEA):c.3899A>C (p.Asp1300Ala) 879255409 MedGen:CN169374 13 35735924 35735924 A C 247088 single nucleotide variant NM_015678.4(NBEA):c.3899A>C (p.Asp1300Ala) 879255409 MedGen:CN169374 13 35161787 35161787 A 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 13 35584132 rs7996851 G A rs7996851 9.99E-05 TOPIRAMATE|FRUCTOSE ANTICONVULSANTS Cognitive impairment induced by topiramate HPOID:0100543 DOID:1561 G intron GWASdb_drug 13 36054972 rs9544427 C T rs9544427 7.50E-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 T intron GWASdb_drug 13 36080957 rs7333310 T C rs7333310 0.0007177 INFLIXIMAB|ADALIMUMAB|IMMUNOGLOBULIN G TUMOR NECROSIS FACTOR-ALPHA|ANTIRHEUMATIC AGENTS|ANTIBODIES, MONOCLONAL, HUMANIZED|TNFR-FC FUSION PROTEIN|ANTIBODIES, MONOCLONAL|RECEPTORS, TUMOR NECROSIS FACTOR Anti-TNF treatment response in rheumatoid arthritis (by DAS-28 score change at 3 months) HPOID:0001370 DOID:7148 T intron GWASdb_drug 13 36080957 rs7333310 T C rs7333310 7.18E-04 LEUCOVORIN|METHOTREXATE SLCO1B1 PROTEIN, HUMAN|ORGANIC ANION TRANSPORTERS Methotrexate clearance (acute lymphoblastic leukemia) HPOID:0006721 DOID:9952|DOID:12603 T intron GWASdb_drug 13 36082142 rs7333195 G T rs7333195 9.77E-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 T intron GWASdb_drug 13 36144078 rs9574135 A C rs9574135 0.0001058 INFLIXIMAB|ADALIMUMAB|IMMUNOGLOBULIN G TUMOR NECROSIS FACTOR-ALPHA|ANTIRHEUMATIC AGENTS|ANTIBODIES, MONOCLONAL, HUMANIZED|TNFR-FC FUSION PROTEIN|ANTIBODIES, MONOCLONAL|RECEPTORS, TUMOR NECROSIS FACTOR Anti-TNF treatment response in rheumatoid arthritis (by DAS-28 score change at 3 months) HPOID:0001370 DOID:7148 A intron GWASdb_drug 13 36144078 rs9574135 A C rs9574135 1.06E-04 LEUCOVORIN|METHOTREXATE SLCO1B1 PROTEIN, HUMAN|ORGANIC ANION TRANSPORTERS Methotrexate clearance (acute lymphoblastic leukemia) HPOID:0006721 DOID:9952|DOID:12603 A intron GWASdb_drug 13 36150959 rs9574151 C A rs9574151 0.0002581 INFLIXIMAB|ADALIMUMAB|IMMUNOGLOBULIN G TUMOR NECROSIS FACTOR-ALPHA|ANTIRHEUMATIC AGENTS|ANTIBODIES, MONOCLONAL, HUMANIZED|TNFR-FC FUSION PROTEIN|ANTIBODIES, MONOCLONAL|RECEPTORS, TUMOR NECROSIS FACTOR Anti-TNF treatment response in rheumatoid arthritis (by DAS-28 score change at 3 months) HPOID:0001370 DOID:7148 C intron GWASdb_drug 13 36150959 rs9574151 C A rs9574151 2.58E-04 LEUCOVORIN|METHOTREXATE SLCO1B1 PROTEIN, HUMAN|ORGANIC ANION TRANSPORTERS Methotrexate clearance (acute lymphoblastic leukemia) HPOID:0006721 DOID:9952|DOID:12603 C intron GWASdb_drug 13 36153969 rs9574161 G T rs9574161 0.0001914 INFLIXIMAB|ADALIMUMAB|IMMUNOGLOBULIN G TUMOR NECROSIS FACTOR-ALPHA|ANTIRHEUMATIC AGENTS|ANTIBODIES, MONOCLONAL, HUMANIZED|TNFR-FC FUSION PROTEIN|ANTIBODIES, MONOCLONAL|RECEPTORS, TUMOR NECROSIS FACTOR Anti-TNF treatment response in rheumatoid arthritis (by DAS-28 score change at 3 months) HPOID:0001370 DOID:7148 G intron GWASdb_drug 13 36153969 rs9574161 G T rs9574161 1.91E-04 LEUCOVORIN|METHOTREXATE SLCO1B1 PROTEIN, HUMAN|ORGANIC ANION TRANSPORTERS Methotrexate clearance (acute lymphoblastic leukemia) HPOID:0006721 DOID:9952|DOID:12603 G intron GWASdb_drug 13 36155684 rs9565383 G A rs9565383 0.0001924 INFLIXIMAB|ADALIMUMAB|IMMUNOGLOBULIN G TUMOR NECROSIS FACTOR-ALPHA|ANTIRHEUMATIC AGENTS|ANTIBODIES, MONOCLONAL, HUMANIZED|TNFR-FC FUSION PROTEIN|ANTIBODIES, MONOCLONAL|RECEPTORS, TUMOR NECROSIS FACTOR Anti-TNF treatment response in rheumatoid arthritis (by DAS-28 score change at 3 months) HPOID:0001370 DOID:7148 A intron GWASdb_drug 13 36155684 rs9565383 G A rs9565383 1.92E-04 LEUCOVORIN|METHOTREXATE SLCO1B1 PROTEIN, HUMAN|ORGANIC ANION TRANSPORTERS Methotrexate clearance (acute lymphoblastic leukemia) HPOID:0006721 DOID:9952|DOID:12603 A intron GWASdb_drug 13 36156587 rs9574172 C G rs9574172 0.0001936 INFLIXIMAB|ADALIMUMAB|IMMUNOGLOBULIN G TUMOR NECROSIS FACTOR-ALPHA|ANTIRHEUMATIC AGENTS|ANTIBODIES, MONOCLONAL, HUMANIZED|TNFR-FC FUSION PROTEIN|ANTIBODIES, MONOCLONAL|RECEPTORS, TUMOR NECROSIS FACTOR Anti-TNF treatment response in rheumatoid arthritis (by DAS-28 score change at 3 months) HPOID:0001370 DOID:7148 G intron GWASdb_drug 13 36156587 rs9574172 C G rs9574172 1.94E-04 LEUCOVORIN|METHOTREXATE SLCO1B1 PROTEIN, HUMAN|ORGANIC ANION TRANSPORTERS Methotrexate clearance (acute lymphoblastic leukemia) HPOID:0006721 DOID:9952|DOID:12603 G intron GWASdb_drug 13 36157004 rs9565388 C G rs9565388 0.0001946 INFLIXIMAB|ADALIMUMAB|IMMUNOGLOBULIN G TUMOR NECROSIS FACTOR-ALPHA|ANTIRHEUMATIC AGENTS|ANTIBODIES, MONOCLONAL, HUMANIZED|TNFR-FC FUSION PROTEIN|ANTIBODIES, MONOCLONAL|RECEPTORS, TUMOR NECROSIS FACTOR Anti-TNF treatment response in rheumatoid arthritis (by DAS-28 score change at 3 months) HPOID:0001370 DOID:7148 C intron GWASdb_drug 13 36157004 rs9565388 C G rs9565388 1.95E-04 LEUCOVORIN|METHOTREXATE SLCO1B1 PROTEIN, HUMAN|ORGANIC ANION TRANSPORTERS Methotrexate clearance (acute lymphoblastic leukemia) HPOID:0006721 DOID:9952|DOID:12603 C intron GWASdb_drug 13 36159159 rs9565391 T G rs9565391 0.0001965 INFLIXIMAB|ADALIMUMAB|IMMUNOGLOBULIN G TUMOR NECROSIS FACTOR-ALPHA|ANTIRHEUMATIC AGENTS|ANTIBODIES, MONOCLONAL, HUMANIZED|TNFR-FC FUSION PROTEIN|ANTIBODIES, MONOCLONAL|RECEPTORS, TUMOR NECROSIS FACTOR Anti-TNF treatment response in rheumatoid arthritis (by DAS-28 score change at 3 months) HPOID:0001370 DOID:7148 G intron GWASdb_drug 13 36159159 rs9565391 T G rs9565391 1.97E-04 LEUCOVORIN|METHOTREXATE SLCO1B1 PROTEIN, HUMAN|ORGANIC ANION TRANSPORTERS Methotrexate clearance (acute lymphoblastic leukemia) HPOID:0006721 DOID:9952|DOID:12603 G intron GWASdb_drug 13 36159265 rs9565392 C T rs9565392 0.0001972 INFLIXIMAB|ADALIMUMAB|IMMUNOGLOBULIN G TUMOR NECROSIS FACTOR-ALPHA|ANTIRHEUMATIC AGENTS|ANTIBODIES, MONOCLONAL, HUMANIZED|TNFR-FC FUSION PROTEIN|ANTIBODIES, MONOCLONAL|RECEPTORS, TUMOR NECROSIS FACTOR Anti-TNF treatment response in rheumatoid arthritis (by DAS-28 score change at 3 months) HPOID:0001370 DOID:7148 T intron GWASdb_drug 13 36159265 rs9565392 C T rs9565392 1.97E-04 LEUCOVORIN|METHOTREXATE SLCO1B1 PROTEIN, HUMAN|ORGANIC ANION TRANSPORTERS Methotrexate clearance (acute lymphoblastic leukemia) HPOID:0006721 DOID:9952|DOID:12603 T intron GWASdb_drug 13 36164985 rs9574203 G A rs9574203 0.0002077 INFLIXIMAB|ADALIMUMAB|IMMUNOGLOBULIN G TUMOR NECROSIS FACTOR-ALPHA|ANTIRHEUMATIC AGENTS|ANTIBODIES, MONOCLONAL, HUMANIZED|TNFR-FC FUSION PROTEIN|ANTIBODIES, MONOCLONAL|RECEPTORS, TUMOR NECROSIS FACTOR Anti-TNF treatment response in rheumatoid arthritis (by DAS-28 score change at 3 months) HPOID:0001370 DOID:7148 G intron GWASdb_drug 13 36164985 rs9574203 G A rs9574203 2.08E-04 LEUCOVORIN|METHOTREXATE SLCO1B1 PROTEIN, HUMAN|ORGANIC ANION TRANSPORTERS Methotrexate clearance (acute lymphoblastic leukemia) HPOID:0006721 DOID:9952|DOID:12603 G intron GWASdb_drug 13 36172282 rs2798337 A G rs2798337 0.0000778 INFLIXIMAB|ADALIMUMAB|IMMUNOGLOBULIN G TUMOR NECROSIS FACTOR-ALPHA|ANTIRHEUMATIC AGENTS|ANTIBODIES, MONOCLONAL, HUMANIZED|TNFR-FC FUSION PROTEIN|ANTIBODIES, MONOCLONAL|RECEPTORS, TUMOR NECROSIS FACTOR Anti-TNF treatment response in rheumatoid arthritis (by DAS-28 score change at 3 months) HPOID:0001370 DOID:7148 A intron GWASdb_drug 13 36172282 rs2798337 A G rs2798337 7.78E-05 LEUCOVORIN|METHOTREXATE SLCO1B1 PROTEIN, HUMAN|ORGANIC ANION TRANSPORTERS Methotrexate clearance (acute lymphoblastic leukemia) HPOID:0006721 DOID:9952|DOID:12603 A intron GWASdb_drug 13 35540656 rs17051776 A G rs17051776 2.99E-05 Cardiovascular disease HPOID:0001626 DOID:1287 A intron GWASdb_trait 13 35573743 rs7332133 T A rs7332133 7.73E-04 Obesity (extreme) HPOID:0001513 DOID:9970 T intron GWASdb_trait 13 35573743 rs79498400 T TA rs7332133 7.73E-04 Obesity (extreme) HPOID:0001513 DOID:9970 T intron GWASdb_trait 13 35584132 rs7996851 G A rs7996851 9.99E-05 Cognitive impairment induced by topiramate HPOID:0100543 DOID:1561 G intron GWASdb_trait 13 35603879 rs9543028 A G rs9543028 6.60E-05 Hemoglobin HPOID:0011902 DOID:2860 A intron GWASdb_trait 13 35768789 rs17051917 C T rs17051917 9.00E-06 Migraine with aura HPOID:0002077 DOID:10024 T intron GWASdb_trait 13 35808182 rs9600364 T C rs9600364 7.00E-05 Body mass index HPOID:0001507 DOID:9970 C intron GWASdb_trait 13 35811439 rs10129134 C T rs10129134 2.96E-05 Body mass index HPOID:0001507 DOID:9970 T intron GWASdb_trait 13 35875125 rs2247674 T A rs2247674 4.80E-05 Cognitive function HPOID:0100543 DOID:1561 T intron GWASdb_trait 13 35930744 rs1197850 T G rs1197850 4.57E-05 Blood Pressure and Arterial Stiffness HPOID:0011025|HPOID:0002634 DOID:2349|DOID:10763 G intron GWASdb_trait 13 35937802 rs486056 C G rs486056 4.27E-04 Multiple complex diseases HPOID:0000118 NA C intron GWASdb_trait 13 35950999 rs1197852 G A rs1197852 5.61E-04 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait 13 35953882 rs9544180 G A rs9544180 9.75E-04 Obesity (extreme) HPOID:0001513 DOID:9970 A intron GWASdb_trait 13 35970655 rs1461968 T C rs1461968 9.81E-04 Obesity (extreme) HPOID:0001513 DOID:9970 C intron GWASdb_trait 13 36026484 rs12100100 A G rs12100100 1.35E-04 Multiple complex diseases HPOID:0000118 NA G,A intron GWASdb_trait 13 36054972 rs9544427 C T rs9544427 7.50E-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 T intron GWASdb_trait 13 36078427 rs7332116 C A rs7332116 1.98E-05 Alcohol and nictotine co-dependence HPOID:0000707 DOID:0050741|DOID:0050742 C intron GWASdb_trait 13 36080957 rs7333310 T C rs7333310 0.0007177 Anti-TNF treatment response in rheumatoid arthritis (by DAS-28 score change at 3 months) HPOID:0001370 DOID:7148 T intron GWASdb_trait 13 36080957 rs7333310 T C rs7333310 7.18E-04 Methotrexate clearance (acute lymphoblastic leukemia) HPOID:0006721 DOID:9952|DOID:12603 T intron GWASdb_trait 13 36081260 rs4500591 G A rs4500591 1.97E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 G intron GWASdb_trait 13 36081432 rs9530648 C T rs9530648 9.45E-04 Multiple complex diseases HPOID:0000118 NA C intron GWASdb_trait 13 36081432 rs9530648 C T rs9530648 5.00E-06 Parkinson's disease (familial) HPOID:0001300 DOID:14330 C intron GWASdb_trait 13 36081750 rs9530649 A G rs9530649 9.61E-04 Iron levels HPOID:0011031 DOID:2351 A intron GWASdb_trait 13 36082762 rs9600885 G A rs9600885 3.66E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 G intron GWASdb_trait 13 36087703 rs17052316 G A rs17052316 8.43E-05 Prostate cancer HPOID:0012125 DOID:10283 G intron GWASdb_trait 13 36089537 rs981386 A G rs981386 7.95E-04 Iron levels HPOID:0011031 DOID:2351 A intron GWASdb_trait 13 36089568 rs12871823 G C rs12871823 4.14E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 G intron GWASdb_trait 13 36090680 rs1381479 T C rs1381479 6.44E-04 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait 13 36090680 rs1381479 T C rs1381479 3.87E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 T intron GWASdb_trait 13 36102523 rs7337804 T C rs7337804 4.88E-05 Prostate cancer HPOID:0012125 DOID:10283 T intron GWASdb_trait 13 36108184 rs4143549 T C rs4143549 5.80E-04 Type 2 diabetes HPOID:0005978 DOID:9352 C intron GWASdb_trait 13 36109202 rs7999690 G A rs7999690 3.40E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 A intron GWASdb_trait 13 36144078 rs9574135 A C rs9574135 0.0001058 Anti-TNF treatment response in rheumatoid arthritis (by DAS-28 score change at 3 months) HPOID:0001370 DOID:7148 A intron GWASdb_trait 13 36144078 rs9574135 A C rs9574135 1.06E-04 Methotrexate clearance (acute lymphoblastic leukemia) HPOID:0006721 DOID:9952|DOID:12603 A intron GWASdb_trait 13 36150959 rs9574151 C A rs9574151 0.0002581 Anti-TNF treatment response in rheumatoid arthritis (by DAS-28 score change at 3 months) HPOID:0001370 DOID:7148 C intron GWASdb_trait 13 36150959 rs9574151 C A rs9574151 2.58E-04 Methotrexate clearance (acute lymphoblastic leukemia) HPOID:0006721 DOID:9952|DOID:12603 C intron GWASdb_trait 13 36153969 rs9574161 G T rs9574161 0.0001914 Anti-TNF treatment response in rheumatoid arthritis (by DAS-28 score change at 3 months) HPOID:0001370 DOID:7148 G intron GWASdb_trait 13 36153969 rs9574161 G T rs9574161 1.91E-04 Methotrexate clearance (acute lymphoblastic leukemia) HPOID:0006721 DOID:9952|DOID:12603 G intron GWASdb_trait 13 36154966 rs1777670 A G rs1777670 4.31E-04 Stroke HPOID:0001297 DOID:6713 G intron GWASdb_trait 13 36155684 rs9565383 G A rs9565383 0.0001924 Anti-TNF treatment response in rheumatoid arthritis (by DAS-28 score change at 3 months) HPOID:0001370 DOID:7148 A intron GWASdb_trait 13 36155684 rs9565383 G A rs9565383 1.92E-04 Methotrexate clearance (acute lymphoblastic leukemia) HPOID:0006721 DOID:9952|DOID:12603 A intron GWASdb_trait 13 36156587 rs9574172 C G rs9574172 0.0001936 Anti-TNF treatment response in rheumatoid arthritis (by DAS-28 score change at 3 months) HPOID:0001370 DOID:7148 G intron GWASdb_trait 13 36156587 rs9574172 C G rs9574172 1.94E-04 Methotrexate clearance (acute lymphoblastic leukemia) HPOID:0006721 DOID:9952|DOID:12603 G intron GWASdb_trait 13 36157004 rs9565388 C G rs9565388 0.0001946 Anti-TNF treatment response in rheumatoid arthritis (by DAS-28 score change at 3 months) HPOID:0001370 DOID:7148 C intron GWASdb_trait 13 36157004 rs9565388 C G rs9565388 1.95E-04 Methotrexate clearance (acute lymphoblastic leukemia) HPOID:0006721 DOID:9952|DOID:12603 C intron GWASdb_trait 13 36159159 rs9565391 T G rs9565391 0.0001965 Anti-TNF treatment response in rheumatoid arthritis (by DAS-28 score change at 3 months) HPOID:0001370 DOID:7148 G intron GWASdb_trait 13 36159159 rs9565391 T G rs9565391 1.97E-04 Methotrexate clearance (acute lymphoblastic leukemia) HPOID:0006721 DOID:9952|DOID:12603 G intron GWASdb_trait 13 36159265 rs9565392 C T rs9565392 0.0001972 Anti-TNF treatment response in rheumatoid arthritis (by DAS-28 score change at 3 months) HPOID:0001370 DOID:7148 T intron GWASdb_trait 13 36159265 rs9565392 C T rs9565392 1.97E-04 Methotrexate clearance (acute lymphoblastic leukemia) HPOID:0006721 DOID:9952|DOID:12603 T intron GWASdb_trait 13 36164985 rs9574203 G A rs9574203 0.0002077 Anti-TNF treatment response in rheumatoid arthritis (by DAS-28 score change at 3 months) HPOID:0001370 DOID:7148 G intron GWASdb_trait 13 36164985 rs9574203 G A rs9574203 2.08E-04 Methotrexate clearance (acute lymphoblastic leukemia) HPOID:0006721 DOID:9952|DOID:12603 G intron GWASdb_trait 13 36165618 rs17052477 A G rs17052477 6.05E-04 Multiple complex diseases HPOID:0000118 NA A intron GWASdb_trait 13 36172282 rs2798337 A G rs2798337 0.0000778 Anti-TNF treatment response in rheumatoid arthritis (by DAS-28 score change at 3 months) HPOID:0001370 DOID:7148 A intron GWASdb_trait 13 36172282 rs2798337 A G rs2798337 7.78E-05 Methotrexate clearance (acute lymphoblastic leukemia) HPOID:0006721 DOID:9952|DOID:12603 A intron GWASdb_trait 13 36177819 rs1777672 G A rs1777672 4.00E-07 HIV-1 control HPOID:0002721 DOID:526 T intron GWASdb_trait 13 36188957 rs9574250 C T rs9574250 9.68E-04 Multiple complex diseases HPOID:0000118 NA C intron GWASdb_trait 13 36224934 rs3794392 T C rs3794392 4.15E-04 Lung function (forced expiratory flow between 25% and 75% of forced vital capacity) HPOID:0002088 DOID:850 G intron GWASdb_trait 13 36229300 rs17769531 A G rs17769531 3.98E-04 Lung function (forced expiratory flow between 25% and 75% of forced vital capacity) HPOID:0002088 DOID:850 A intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000172915.18 NBEA 604889