Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 20250 single nucleotide variant NM_015093.5(TAB2):c.622C>T (p.Pro208Ser) 267607101 MedGen:C3150216,OMIM:614980 6 149699673 149699673 C T 20250 single nucleotide variant NM_015093.5(TAB2):c.622C>T (p.Pro208Ser) 267607101 MedGen:C3150216,OMIM:614980 6 149378537 149378537 C T 20251 single nucleotide variant NM_015093.5(TAB2):c.688C>A (p.Gln230Lys) 267607100 MedGen:C3150216,OMIM:614980 6 149699739 149699739 C A 20251 single nucleotide variant NM_015093.5(TAB2):c.688C>A (p.Gln230Lys) 267607100 MedGen:C3150216,OMIM:614980 6 149378603 149378603 C A 259298 single nucleotide variant NM_015093.5(TAB2):c.1705G>A (p.Glu569Lys) 886039238 MedGen:CN221809 6 149718841 149718841 G A 259298 single nucleotide variant NM_015093.5(TAB2):c.1705G>A (p.Glu569Lys) 886039238 MedGen:CN221809 6 149397705 149397705 G A 264201 deletion NM_015093.5(TAB2):c.1386delC (p.Tyr462Terfs) 886041646 MedGen:CN221809 6 149700437 149700437 C - 264201 deletion NM_015093.5(TAB2):c.1386delC (p.Tyr462Terfs) 886041646 MedGen:CN221809 6 149379301 149379301 C - 359722 single nucleotide variant NM_015093.5(TAB2):c.251C>A (p.Ser84Ter) 1057518437 MedGen:CN221809 6 149378166 149378166 C A 359722 single nucleotide variant NM_015093.5(TAB2):c.251C>A (p.Ser84Ter) 1057518437 MedGen:CN221809 6 149699302 149699302 C A 359730 single nucleotide variant NM_015093.5(TAB2):c.403C>T (p.Gln135Ter) 1057517934 MedGen:CN221809 6 149699454 149699454 C T 359730 single nucleotide variant NM_015093.5(TAB2):c.403C>T (p.Gln135Ter) 1057517934 MedGen:CN221809 6 149378318 149378318 C T 359733 single nucleotide variant NM_015093.5(TAB2):c.1195C>T (p.Gln399Ter) 1057518015 MedGen:CN221809 6 149379110 149379110 C T 359733 single nucleotide variant NM_015093.5(TAB2):c.1195C>T (p.Gln399Ter) 1057518015 MedGen:CN221809 6 149700246 149700246 C T 359735 single nucleotide variant NM_015093.5(TAB2):c.1376A>G (p.Asn459Ser) 763586712 MedGen:CN169374 6 149379291 149379291 A G 359735 single nucleotide variant NM_015093.5(TAB2):c.1376A>G (p.Asn459Ser) 763586712 MedGen:CN169374 6 149700427 149700427 A G 359762 single nucleotide variant NM_015093.5(TAB2):c.1039C>T (p.Arg347Ter) 1057518422 MedGen:CN221809 6 149378954 149378954 C T 359762 single nucleotide variant NM_015093.5(TAB2):c.1039C>T (p.Arg347Ter) 1057518422 MedGen:CN221809 6 149700090 149700090 C T

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 6 149654120 rs11155642 G A rs11155642 3.16E-05 CHOLESTEROL ABCG8 PROTEIN, HUMAN Gallstones HPOID:0001081 DOID:11151 G intron GWASdb_drug 6 149672323 rs12665694 A G rs12665694 7.39E-04 GEMCITABINE|CYTARABINE MANNOSYLTRANSFERASES|PIGB PROTEIN, HUMAN|RNA, SMALL INTERFERING|DEOXYCYTIDINE Response to cytidine analogues (gemcitabine) HPOID:0002664 DOID:162 A intron GWASdb_drug 6 149637690 rs11155639 T C rs11155639 6.79E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 T nearGene-5 GWASdb_trait 6 149641627 rs1900300 T C rs1900300 4.12E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 T intron GWASdb_trait 6 149643709 rs9498321 T C rs9498321 1.27E-04 Follicular lymphoma HPOID:0002665 DOID:0060060 C intron GWASdb_trait 6 149646500 rs4895787 G A rs4895787 3.20E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 G intron GWASdb_trait 6 149654120 rs11155642 G A rs11155642 3.16E-05 Gallstones HPOID:0001081 DOID:11151 G intron GWASdb_trait 6 149658101 rs11964335 A T rs11964335 2.02E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 A intron GWASdb_trait 6 149658978 rs504985 T G rs504985 2.17E-05 Follicular lymphoma HPOID:0002665 DOID:0060060 G intron GWASdb_trait 6 149658978 rs504985 T G rs504985 5.65E-04 Myocardial Infarction HPOID:0001658 DOID:5844 G intron GWASdb_trait 6 149662991 rs6942381 G C rs6942381 6.20E-05 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 G intron GWASdb_trait 6 149672323 rs12665694 A G rs12665694 7.39E-04 Response to cytidine analogues (gemcitabine) HPOID:0002664 DOID:162 A intron GWASdb_trait 6 149672375 rs6922130 C G rs6922130 7.08E-05 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 C intron GWASdb_trait 6 149686518 rs13219868 T G rs13219868 4.25E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 T intron GWASdb_trait 6 149691355 rs6570963 T G rs6570963 1.97E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 T intron GWASdb_trait 6 149691859 rs6570964 G A rs6570964 2.43E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 G intron GWASdb_trait 6 149693784 rs9498335 C A rs9498335 1.23E-04 Follicular lymphoma HPOID:0002665 DOID:0060060 C intron GWASdb_trait 6 149710848 rs237035 C T rs237035 3.06E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 A intron GWASdb_trait 6 149711983 rs9404034 G C rs9404034 8.17E-04 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait 6 149718650 rs237028 C T rs237028 4.12E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 A intron GWASdb_trait 6 149720681 rs237026 G A rs237026 3.49E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 T intron GWASdb_trait 6 149728254 rs805026 G C rs805026 3.72E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 G intron GWASdb_trait 6 149729198 rs237012 T C rs237012 3.72E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 G intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000055208.18 TAB2 605101