Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 97452 single nucleotide variant NM_007314.3(ABL2):c.2085A>G (p.Leu695=) 386352273 MedGen:CN221809 1 179078317 179078317 T C 97452 single nucleotide variant NM_007314.3(ABL2):c.2085A>G (p.Leu695=) 386352273 MedGen:CN221809 1 179109182 179109182 T 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 1 179071756 rs1325195 G A rs1325195 5.00E-06 IgE grass sensitization HPOID:0010701 DOID:4481 C UTR-3 GWASdb_trait 1 179077613 rs17277288 T C rs17277288 2.70E-04 Atrial fibrillation HPOID:0005110 DOID:0050650 T missense GWASdb_trait 1 179079190 rs3818433 T C rs3818433 3.92E-05 Body Mass Index HPOID:0001507 DOID:9970 G intron GWASdb_trait 1 179084080 rs2274230 T G rs2274230 4.11E-04 Response to taxane treatment (placlitaxel) HPOID:0100526 DOID:1324 A cds-synon GWASdb_trait 1 179084408 rs9724754 C A rs9724754 4.11E-04 Response to taxane treatment (placlitaxel) HPOID:0100526 DOID:1324 C intron GWASdb_trait 1 179100710 rs17277358 C T rs17277358 4.11E-04 Response to taxane treatment (placlitaxel) HPOID:0100526 DOID:1324 C intron GWASdb_trait 1 179124290 rs9650996 G A rs9650996 3.76E-06 Left ventricular mass HPOID:0005162 DOID:10763 G intron GWASdb_trait

Disease associated variation - GWAS Central Study Name Source Marker Accession Chromosome Marker Start Marker Stop Alleles Gene Section P-value -log(p-value) GWAS of prostate cancer rs2171958 1 179176398 179176398 intronic 0.874457 0.058261541384689905 GWAS of prostate cancer rs12122267 1 179195240 179195240 intronic 0.829245 0.0813171384143963 GWAS of prostate cancer rs9724754 1 179084408 179084408 intronic 0.794625 0.0998377755614865 GWAS of prostate cancer rs2274229 1 179084268 179084268 intronic 0.428292 0.3682600376471 GWAS of prostate cancer rs3818433 1 179079190 179079190 intronic 0.329912 0.48160188742828103 GWAS of prostate cancer rs1490311 1 179075755 179075755 UTR3 0.261651 0.5822776010976309

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000143322.19 ABL2 164690