Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 97464 single nucleotide variant NM_015057.4(MYCBP2):c.13840A>G (p.Thr4614Ala) 386352333 MedGen:CN221809 13 77625213 77625213 T C 97464 single nucleotide variant NM_015057.4(MYCBP2):c.13840A>G (p.Thr4614Ala) 386352333 MedGen:CN221809 13 77051078 77051078 T C 171540 single nucleotide variant NM_015057.4(MYCBP2):c.7770G>A (p.Met2590Ile) 193920951 MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 13 77126432 77126432 C T 171540 single nucleotide variant NM_015057.4(MYCBP2):c.7770G>A (p.Met2590Ile) 193920951 MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 13 77700567 77700567 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 13 77682508 rs7991286 A G rs7991286 4.14E-04 ATORVASTATIN SERINE ENDOPEPTIDASES|PYRROLES|PCSK9 PROTEIN, HUMAN|HEPTANOIC ACIDS|APOLIPOPROTEINS E|PROPROTEIN CONVERTASES Response to statin treatment (atorvastatin), change in cholesterol levels HPOID:0001626 DOID:1287 A intron GWASdb_drug 13 77687433 rs9544420 T C rs9544420 9.02E-05 METHOTREXATE POLYGLUTAMIC ACID|ANTIMETABOLITES, ANTINEOPLASTIC|DOPA DECARBOXYLASE|MKL1 PROTEIN, HUMAN|IKAROS TRANSCRIPTION FACTOR|ARID5B PROTEIN, HUMAN|TRANSCRIPTION FACTORS|IKZF1 PROTEIN, HUMAN|ONCOGENE PROTEINS, FUSION|DNA-BINDING PROTEINS Acute lymphoblastic leukemia (childhood) HPOID:0006721 DOID:9952|DOID:12603 T intron GWASdb_drug 5 102225847 rs1423138 T C rs1423138 5.23E-04 Smoking initiation HPOID:0000707 DOID:0050742 C intron GWASdb_trait 5 102317042 rs6596529 C T rs6596529 7.89E-04 Schizophrenia HPOID:0100753 DOID:5419 T intron GWASdb_trait 5 102323766 rs11242483 C T rs11242483 5.51E-04 Schizophrenia HPOID:0100753 DOID:5419 T intron GWASdb_trait 5 102338811 rs35658696 A G rs35658696 0.000000019 Insulin processing and secretion HPOID:0005978 DOID:9352 T missense GWASdb_trait 5 102352034 rs3776859 A C rs3776859 6.57E-04 Schizophrenia HPOID:0100753 DOID:5419 G intron GWASdb_trait 5 102362929 rs11948273 A T rs11948273 9.50E-04 Multiple complex diseases HPOID:0000118 NA A intron GWASdb_trait 5 102363402 rs26434 C T rs26434 2.59E-04 Schizophrenia HPOID:0100753 DOID:5419 T intron GWASdb_trait 13 77622818 rs624575 C T rs624575 1.50E-06 Preeclampsia HPOID:0100602 DOID:10591 T intron GWASdb_trait 13 77682508 rs7991286 A G rs7991286 4.14E-04 Response to statin treatment (atorvastatin), change in cholesterol levels HPOID:0001626 DOID:1287 A intron GWASdb_trait 13 77687433 rs9544420 T C rs9544420 9.02E-05 Acute lymphoblastic leukemia (childhood) HPOID:0006721 DOID:9952|DOID:12603 T intron GWASdb_trait 13 77723410 rs7337686 G A rs7337686 6.60E-06 Preeclampsia HPOID:0100602 DOID:10591 A intron GWASdb_trait 13 77862984 rs9530631 G A rs9530631 5.91E-06 Preeclampsia HPOID:0100602 DOID:10591 A intron GWASdb_trait 13 77879376 rs7322722 G A rs7322722 1.00E-06 Preeclampsia HPOID:0100602 DOID:10591 G intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000005810.17 MYCBP2 610392