Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 160314 copy number gain GRCh38/hg38 12q23.3(chr12:107392918-107670894)x3 -1 - 12 107786695 108064671 na na 160314 copy number gain GRCh38/hg38 12q23.3(chr12:107392918-107670894)x3 -1 - 12 107392918 107670894 na na 160314 copy number gain GRCh38/hg38 12q23.3(chr12:107392918-107670894)x3 -1 - 12 106310825 106588801 na na 220998 single nucleotide variant NM_001018072.1(BTBD11):c.148A>G (p.Ser50Gly) 200629571 MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 12 107319088 107319088 A G 220998 single nucleotide variant NM_001018072.1(BTBD11):c.148A>G (p.Ser50Gly) 200629571 MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 12 107712865 107712865 A G

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 107751511 rs4964569 G A rs4964569 6.38E-05 NICOTINE|BUPROPION NICOTINIC AGONISTS|ANTIDEPRESSIVE AGENTS, SECOND-GENERATION Smoking cessation HPOID:0000707 DOID:0050742 G intron GWASdb_drug 12 107772248 rs1426467 C G rs1426467 6.49E-05 NICOTINE|BUPROPION NICOTINIC AGONISTS|ANTIDEPRESSIVE AGENTS, SECOND-GENERATION Smoking cessation HPOID:0000707 DOID:0050742 C intron GWASdb_drug 12 107830356 rs7957618 C T rs7957618 1.72E-04 NICOTINE|BUPROPION NICOTINIC AGONISTS|ANTIDEPRESSIVE AGENTS, SECOND-GENERATION Smoking cessation HPOID:0000707 DOID:0050742 T intron GWASdb_drug 12 107847588 rs10861740 G C rs10861740 8.40E-04 GEMCITABINE|CYTARABINE MANNOSYLTRANSFERASES|PIGB PROTEIN, HUMAN|RNA, SMALL INTERFERING|DEOXYCYTIDINE Response to cytidine analogues (gemcitabine) HPOID:0002664 DOID:162 G intron GWASdb_drug 12 107861624 rs10778561 T C rs10778561 1.91E-05 NICOTINE|BUPROPION NICOTINIC AGONISTS|ANTIDEPRESSIVE AGENTS, SECOND-GENERATION Smoking cessation HPOID:0000707 DOID:0050742 C intron GWASdb_drug 12 107723717 rs10861724 G A rs10861724 7.09E-04 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait 12 107728676 rs759564 G A rs759564 9.97E-04 Alzheimer's disease HPOID:0002511 DOID:10652 G intron GWASdb_trait 12 107732227 rs7953431 T G rs7953431 6.46E-05 Major depressive disorder HPOID:0000716 DOID:1470 G intron GWASdb_trait 12 107743775 rs1863538 A C rs1863538 3.32E-05 Major depressive disorder HPOID:0000716 DOID:1470 G intron GWASdb_trait 12 107750777 rs4964213 T C rs4964213 1.30E-05 Amyotrophic Lateral Sclerosis HPOID:0007354 DOID:332 C intron GWASdb_trait 12 107751511 rs4964569 G A rs4964569 6.38E-05 Smoking cessation HPOID:0000707 DOID:0050742 G intron GWASdb_trait 12 107767730 rs11113292 G A rs11113292 5.39E-05 Major depressive disorder HPOID:0000716 DOID:1470 G intron GWASdb_trait 12 107771447 rs7968306 T C rs7968306 5.53E-04 Multiple complex diseases HPOID:0000118 NA T,C intron GWASdb_trait 12 107772248 rs1426467 C G rs1426467 6.49E-05 Smoking cessation HPOID:0000707 DOID:0050742 C intron GWASdb_trait 12 107772542 rs10861732 G A rs10861732 6.96E-04 Amyotrophic Lateral Sclerosis HPOID:0007354 DOID:332 G intron GWASdb_trait 12 107772567 rs1426466 T C rs1426466 9.49E-05 Multiple complex diseases HPOID:0000118 NA A intron GWASdb_trait 12 107776025 rs10861733 A G rs10861733 8.96E-04 Alzheimer's disease HPOID:0002511 DOID:10652 A intron GWASdb_trait 12 107779889 rs7302236 A G rs7302236 4.12E-04 Amyotrophic Lateral Sclerosis HPOID:0007354 DOID:332 G intron GWASdb_trait 12 107785498 rs1895990 T C rs1895990 8.26E-06 Serum metabolites HPOID:0011111 NA G intron GWASdb_trait 12 107788365 rs10128899 G A rs10128899 3.02E-04 Rheumatoid arthritis HPOID:0001370 DOID:7148 G intron GWASdb_trait 12 107790783 rs10778554 A C rs10778554 3.09E-04 Rheumatoid arthritis HPOID:0001370 DOID:7148 A intron GWASdb_trait 12 107801897 rs749137 A G rs749137 8.68E-05 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait 12 107814757 rs11113318 A G rs11113318 5.00E-04 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait 12 107830356 rs7957618 C T rs7957618 1.72E-04 Smoking cessation HPOID:0000707 DOID:0050742 T intron GWASdb_trait 12 107842863 rs17039297 C T rs17039297 7.32E-04 Multiple complex diseases HPOID:0000118 NA C intron GWASdb_trait 12 107847588 rs10861740 G C rs10861740 8.40E-04 Response to cytidine analogues (gemcitabine) HPOID:0002664 DOID:162 G intron GWASdb_trait 12 107861624 rs10778561 T C rs10778561 1.91E-05 Smoking cessation HPOID:0000707 DOID:0050742 C intron GWASdb_trait 12 107861624 rs10778561 T C rs10778561 1.48E-05 Parent of origin effect on language impairment (maternal) HPOID:0002463 DOID:93 C intron GWASdb_trait 12 107879066 rs11113349 C T rs11113349 1.16E-05 Response to methotrexate in juvenile idiopathic arthritis HPOID:0005681 DOID:676 C intron GWASdb_trait 12 107922099 rs11113379 G A rs11113379 9.61E-04 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait 12 107942604 rs17756735 G A rs17756735 3.64E-06 C-reactive protein HPOID:0010876 DOID:14221|DOID:9352|DOID:10763|DOID:5844 G intron GWASdb_trait 12 107956249 rs182722816 G T rs182722816 7.00E-07 Asthma HPOID:0002099 DOID:2841 G intron GWASdb_trait 12 107979573 rs11832945 T A rs11832945 4.06E-04 Multiple complex diseases HPOID:0000118 NA A intron GWASdb_trait 12 107979941 rs957626 C A rs957626 9.20E-05 Response to lithium treatment in bipolar disorder HPOID:0007302 DOID:3312 G intron GWASdb_trait 12 107987966 rs4528429 G A rs4528429 6.22E-05 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait 12 108040682 rs7309802 G T rs7309802 7.05E-04 Obesity (extreme) HPOID:0001513 DOID:9970 G intron GWASdb_trait 12 108045139 rs2241187 T G rs2241187 3.96E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 A intron GWASdb_trait 12 108045139 rs2241187 T G rs2241187 5.45E-05 Obesity (extreme) HPOID:0001513 DOID:9970 A intron GWASdb_trait