Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 76991 single nucleotide variant NM_006785.3(MALT1):c.266G>T (p.Ser89Ile) 398123058 MedGen:C3809583,OMIM:615468,Orphanet:ORPHA397964 18 56348458 56348458 G T 76991 single nucleotide variant NM_006785.3(MALT1):c.266G>T (p.Ser89Ile) 398123058 MedGen:C3809583,OMIM:615468,Orphanet:ORPHA397964 18 58681226 58681226 G T 132637 single nucleotide variant NM_006785.3(MALT1):c.1739G>C (p.Trp580Ser) 587777337 MedGen:C3809583,OMIM:615468,Orphanet:ORPHA397964 18 58742000 58742000 G C 132637 single nucleotide variant NM_006785.3(MALT1):c.1739G>C (p.Trp580Ser) 587777337 MedGen:C3809583,OMIM:615468,Orphanet:ORPHA397964 18 56409232 56409232 G C 187140 single nucleotide variant NM_006785.3(MALT1):c.1019-2A>G 786200953 MedGen:C0494261 18 56390278 56390278 A G 187140 single nucleotide variant NM_006785.3(MALT1):c.1019-2A>G 786200953 MedGen:C0494261 18 58723046 58723046 A G 187141 deletion NM_006785.3(MALT1):c.1060delC (p.Arg354Glyfs) 786200954 MedGen:C0494261 18 58723089 58723089 C - 187141 deletion NM_006785.3(MALT1):c.1060delC (p.Arg354Glyfs) 786200954 MedGen:C0494261 18 56390321 56390321 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 18 56363908 rs12455229 A C rs12455229 6.35E-04 Response to taxane treatment (placlitaxel) HPOID:0100526 DOID:1324 A intron GWASdb_trait 18 56376936 rs4293479 A G rs4293479 1.23E-05 Multiple complex diseases HPOID:0000118 NA A intron GWASdb_trait 18 56384192 rs7238078 T G rs7238078 3.00E-09 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 T intron GWASdb_trait 18 56384192 rs7238078 T G rs7238078 7.50E-04 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 T intron GWASdb_trait 18 56410129 rs7506022 C G rs7506022 9.43E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 C intron GWASdb_trait 18 56416469 rs2319974 A G rs2319974 1.17E-06 Alcohol and nictotine co-dependence HPOID:0000707 DOID:0050741|DOID:0050742 T UTR-3 GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000172175.12 MALT1 604860