Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 27663 single nucleotide variant NM_007313.2(ABL1):c.1001C>T (p.Thr334Ile) 121913459 MedGen:C4016396 9 133748283 133748283 C T 27663 single nucleotide variant NM_007313.2(ABL1):c.1001C>T (p.Thr334Ile) 121913459 MedGen:C4016396 9 130872896 130872896 C T 27664 single nucleotide variant NM_007313.2(ABL1):c.764A>T (p.Glu255Val) 387906516 MedGen:C4016396 9 133738307 133738307 A T 27664 single nucleotide variant NM_007313.2(ABL1):c.764A>T (p.Glu255Val) 387906516 MedGen:C4016396 9 130862920 130862920 A T 27665 single nucleotide variant NM_007313.2(ABL1):c.763G>A (p.Glu255Lys) 387906517 MedGen:C4016396 9 133738306 133738306 G A 27665 single nucleotide variant NM_007313.2(ABL1):c.763G>A (p.Glu255Lys) 387906517 MedGen:C4016396 9 130862919 130862919 G A 27666 single nucleotide variant NM_007313.2(ABL1):c.814T>C (p.Tyr272His) 121913461 MedGen:C4016396 9 133738357 133738357 T C 27666 single nucleotide variant NM_007313.2(ABL1):c.814T>C (p.Tyr272His) 121913461 MedGen:C4016396 9 130862970 130862970 T C 27667 single nucleotide variant NM_007313.2(ABL1):c.988T>C (p.Phe330Leu) 137853304 MedGen:C4016397 9 133748270 133748270 T C 27667 single nucleotide variant NM_007313.2(ABL1):c.988T>C (p.Phe330Leu) 137853304 MedGen:C4016397 9 130872883 130872883 T C 27668 single nucleotide variant NM_007313.2(ABL1):c.1109T>C (p.Met370Thr) 121913457 MedGen:C4016397 9 133748391 133748391 T C 27668 single nucleotide variant NM_007313.2(ABL1):c.1109T>C (p.Met370Thr) 121913457 MedGen:C4016397 9 130873004 130873004 T C 137173 single nucleotide variant NM_007313.2(ABL1):c.2066A>G (p.Asn689Ser) 61746126 MedGen:CN169374 9 133759686 133759686 A G 137173 single nucleotide variant NM_007313.2(ABL1):c.2066A>G (p.Asn689Ser) 61746126 MedGen:CN169374 9 130884299 130884299 A G 137174 single nucleotide variant NM_007313.2(ABL1):c.2683A>G (p.Arg895Gly) 587778012 MedGen:CN169374 9 133760303 133760303 A G 137174 single nucleotide variant NM_007313.2(ABL1):c.2683A>G (p.Arg895Gly) 587778012 MedGen:CN169374 9 130884916 130884916 A G 137175 single nucleotide variant NM_007313.2(ABL1):c.1793C>T (p.Pro598Leu) 587778013 MedGen:CN169374 9 133759413 133759413 C T 137175 single nucleotide variant NM_007313.2(ABL1):c.1793C>T (p.Pro598Leu) 587778013 MedGen:CN169374 9 130884026 130884026 C T 137176 single nucleotide variant NM_007313.2(ABL1):c.2200C>T (p.Arg734Cys) 587778014 MedGen:CN169374 9 133759820 133759820 C T 137176 single nucleotide variant NM_007313.2(ABL1):c.2200C>T (p.Arg734Cys) 587778014 MedGen:CN169374 9 130884433 130884433 C T 137177 single nucleotide variant NM_007313.2(ABL1):c.2407C>G (p.Pro803Ala) 201376463 MedGen:CN169374 9 133760027 133760027 C G 137177 single nucleotide variant NM_007313.2(ABL1):c.2407C>G (p.Pro803Ala) 201376463 MedGen:CN169374 9 130884640 130884640 C G 137178 single nucleotide variant NM_007313.2(ABL1):c.2473C>A (p.Pro825Thr) 149412304 MedGen:CN169374 9 133760093 133760093 C A 137178 single nucleotide variant NM_007313.2(ABL1):c.2473C>A (p.Pro825Thr) 149412304 MedGen:CN169374 9 130884706 130884706 C A 137179 single nucleotide variant NM_007313.2(ABL1):c.2486C>T (p.Pro829Leu) 2229071 MedGen:CN169374 9 133760106 133760106 C T 137179 single nucleotide variant NM_007313.2(ABL1):c.2486C>T (p.Pro829Leu) 2229071 MedGen:CN169374 9 130884719 130884719 C T 137180 single nucleotide variant NM_007313.2(ABL1):c.2551C>A (p.His851Asn) 377450717 MedGen:CN169374 9 133760171 133760171 C A 137180 single nucleotide variant NM_007313.2(ABL1):c.2551C>A (p.His851Asn) 377450717 MedGen:CN169374 9 130884784 130884784 C A 137181 single nucleotide variant NM_007313.2(ABL1):c.2939C>T (p.Pro980Leu) 557879885 MedGen:CN169374 9 133760559 133760559 C T 137181 single nucleotide variant NM_007313.2(ABL1):c.2939C>T (p.Pro980Leu) 557879885 MedGen:CN169374 9 130885172 130885172 C T 137182 single nucleotide variant NM_007313.2(ABL1):c.2972C>T (p.Ser991Leu) 2229067 MedGen:CN169374 9 133760592 133760592 C T 137182 single nucleotide variant NM_007313.2(ABL1):c.2972C>T (p.Ser991Leu) 2229067 MedGen:CN169374 9 130885205 130885205 C T 137183 single nucleotide variant NM_007313.2(ABL1):c.1823G>A (p.Arg608His) 376925416 MedGen:CN169374 9 133759443 133759443 G A 137183 single nucleotide variant NM_007313.2(ABL1):c.1823G>A (p.Arg608His) 376925416 MedGen:CN169374 9 130884056 130884056 G A 137184 single nucleotide variant NM_007313.2(ABL1):c.2173G>A (p.Gly725Ser) 143837301 MedGen:CN169374 9 133759793 133759793 G A 137184 single nucleotide variant NM_007313.2(ABL1):c.2173G>A (p.Gly725Ser) 143837301 MedGen:CN169374 9 130884406 130884406 G A 137185 single nucleotide variant NM_007313.2(ABL1):c.2638G>A (p.Ala880Thr) 199613441 MedGen:CN169374 9 133760258 133760258 G A 137185 single nucleotide variant NM_007313.2(ABL1):c.2638G>A (p.Ala880Thr) 199613441 MedGen:CN169374 9 130884871 130884871 G A 137186 single nucleotide variant NM_007313.2(ABL1):c.2987G>A (p.Ser996Asn) 587778015 MedGen:CN169374 9 133760607 133760607 G A 137186 single nucleotide variant NM_007313.2(ABL1):c.2987G>A (p.Ser996Asn) 587778015 MedGen:CN169374 9 130885220 130885220 G A 137187 single nucleotide variant NM_007313.2(ABL1):c.185G>A (p.Ser62Asn) 61741003 MedGen:CN169374 9 133729499 133729499 G A 137187 single nucleotide variant NM_007313.2(ABL1):c.185G>A (p.Ser62Asn) 61741003 MedGen:CN169374 9 130854112 130854112 G A 137188 single nucleotide variant NM_007313.2(ABL1):c.344A>G (p.Asn115Ser) 587778016 MedGen:CN169374 9 133730221 133730221 A G 137188 single nucleotide variant NM_007313.2(ABL1):c.344A>G (p.Asn115Ser) 587778016 MedGen:CN169374 9 130854834 130854834 A G 137189 single nucleotide variant NM_007313.2(ABL1):c.797A>G (p.Lys266Arg) 34549764 MedGen:CN169374 9 133738340 133738340 A G 137189 single nucleotide variant NM_007313.2(ABL1):c.797A>G (p.Lys266Arg) 34549764 MedGen:CN169374 9 130862953 130862953 A G 137190 single nucleotide variant NM_007313.2(ABL1):c.865G>T (p.Val289Leu) 587778017 MedGen:CN169374 9 133738408 133738408 G T 137190 single nucleotide variant NM_007313.2(ABL1):c.865G>T (p.Val289Leu) 587778017 MedGen:CN169374 9 130863021 130863021 G T 137191 single nucleotide variant NM_007313.2(ABL1):c.1474C>G (p.Arg492Gly) 377657490 MedGen:CN169374 9 133753948 133753948 C G 137191 single nucleotide variant NM_007313.2(ABL1):c.1474C>G (p.Arg492Gly) 377657490 MedGen:CN169374 9 130878561 130878561 C G 137192 single nucleotide variant NM_007313.2(ABL1):c.1475G>A (p.Arg492Gln) 62638716 MedGen:CN169374 9 133753949 133753949 G A 137192 single nucleotide variant NM_007313.2(ABL1):c.1475G>A (p.Arg492Gln) 62638716 MedGen:CN169374 9 130878562 130878562 G A

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 9 133745487 rs6597645 A G rs6597645 9.85E-06 DEXTROAMPHETAMINE PLACEBOS|CADHERINS|H-CADHERIN|PREGNANOLONE Response to amphetamines HPOID:0000707 DOID:670 A intron GWASdb_drug 9 133747734 rs4740376 C T rs4740376 9.11E-06 DEXTROAMPHETAMINE PLACEBOS|CADHERINS|H-CADHERIN|PREGNANOLONE Response to amphetamines HPOID:0000707 DOID:670 C intron GWASdb_drug 9 133748083 rs2070997 A G rs2070997 8.00E-06 DEXTROAMPHETAMINE PLACEBOS|CADHERINS|H-CADHERIN|PREGNANOLONE Response to amphetamines HPOID:0000707 DOID:670 A intron GWASdb_drug 9 133620998 rs2789764 T A rs2789764 1.20E-05 Urinary metabolites HPOID:0000079 DOID:557 A intron GWASdb_trait 9 133629184 rs4740363 A G rs4740363 9.30E-05 Neutrophil count HPOID:0001874 DOID:74|DOID:526 NA intron GWASdb_trait 9 133630622 rs4740366 A G rs4740366 9.84E-05 Neutrophil count HPOID:0001874 DOID:74|DOID:526 G intron GWASdb_trait 9 133636808 rs4740203 C T rs4740203 8.62E-05 Lymphocyte counts HPOID:0004332|HPOID:0002665 DOID:2841|DOID:1240|DOID:0060058|DOID:614|DOID:1287 C intron GWASdb_trait 9 133636808 rs4740203 C T rs4740203 4.23E-05 Neutrophil count HPOID:0001874 DOID:74|DOID:526 C intron GWASdb_trait 9 133675143 rs11244146 G A rs11244146 2.40E-05 Personality dimensions HPOID:0012075 DOID:1510 G intron GWASdb_trait 9 133700786 rs2260323 T C rs2260323 4.82E-08 Coronary heart disease HPOID:0001677 DOID:3393 T intron GWASdb_trait 9 133708361 rs2855190 T C rs2855190 7.60E-05 Personality dimensions HPOID:0012075 DOID:1510 C intron GWASdb_trait 9 133708361 rs2855190 T C rs2855190 7.80E-05 Age-related macular degeneration HPOID:0007868 DOID:10871 C intron GWASdb_trait 9 133725767 rs6597642 G A rs6597642 8.00E-05 Personality dimensions HPOID:0012075 DOID:1510 A intron GWASdb_trait 9 133731184 rs1800609 T C rs1800609 6.10E-05 Personality dimensions HPOID:0012075 DOID:1510 T intron GWASdb_trait 9 133731184 rs1800609 T C rs1800609 1.44E-08 Coronary heart disease HPOID:0001677 DOID:3393 T intron GWASdb_trait 9 133734075 rs3824400 C T rs3824400 6.50E-05 Personality dimensions HPOID:0012075 DOID:1510 A intron GWASdb_trait 9 133745487 rs6597645 A G rs6597645 9.85E-06 Response to amphetamines HPOID:0000707 DOID:670 A intron GWASdb_trait 9 133746117 rs3808816 T C rs3808816 8.10E-04 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait 9 133747734 rs4740376 C T rs4740376 9.11E-06 Response to amphetamines HPOID:0000707 DOID:670 C intron GWASdb_trait 9 133748083 rs2070997 A G rs2070997 8.00E-06 Response to amphetamines HPOID:0000707 DOID:670 A intron GWASdb_trait 9 133754220 rs4740377 T C rs4740377 3.04E-04 Multiple complex diseases HPOID:0000118 NA C intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000097007.17 ABL1 189980