Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 156338 copy number gain GRCh38/hg38 14q22.3(chr14:56101817-56352516)x3 -1 - 14 56568535 56819234 na na 156338 copy number gain GRCh38/hg38 14q22.3(chr14:56101817-56352516)x3 -1 - 14 56101817 56352516 na na 156338 copy number gain GRCh38/hg38 14q22.3(chr14:56101817-56352516)x3 -1 - 14 55638288 55888987 na na

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 14 56721596 rs242581 C T rs242581 5.33E-05 CISPLATIN|CARBOPLATIN NAG PROTEIN, HUMAN|ORGANOPLATINUM COMPOUNDS|NEOPLASM PROTEINS Cisplatin and carboplatin cytotoxicity, in blood cell lines HPOID:0100526|HPOID:0012288|HPOID:0010788 DOID:9256|DOID:11934|DOID:2998|DOID:1324 A intron GWASdb_drug 14 56594420 rs3912201 T C rs3912201 1.86E-04 Multiple complex diseases HPOID:0000118 NA C intron GWASdb_trait 14 56594420 rs3912201 T C rs3912201 1.02E-05 Serum metabolites HPOID:0011111 NA C intron GWASdb_trait 14 56597317 rs10150333 T C rs10150333 8.72E-04 Multiple complex diseases HPOID:0000118 NA C intron GWASdb_trait 14 56597317 rs10150333 T C rs10150333 5.76E-05 Serum metabolites HPOID:0011111 NA C intron GWASdb_trait 14 56597317 rs10150333 T C rs10150333 6.82E-04 Insulin resistance HPOID:0000855 DOID:9352 C intron GWASdb_trait 14 56602704 rs7157209 T C rs7157209 3.52E-04 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait 14 56604125 rs4127813 C T rs4127813 9.63E-05 Smoking quantity HPOID:0000707 DOID:0050742 C intron GWASdb_trait 14 56604840 rs17688725 C T rs17688725 4.51E-04 Smoking quantity HPOID:0000707 DOID:0050742 C intron GWASdb_trait 14 56607659 rs17688801 G A rs17688801 2.91E-04 Smoking quantity HPOID:0000707 DOID:0050742 G intron GWASdb_trait 14 56616639 rs7145330 T G rs7145330 2.24E-04 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait 14 56616639 rs7145330 T G rs7145330 6.02E-04 Insulin resistance HPOID:0000855 DOID:9352 G intron GWASdb_trait 14 56618078 rs2343376 C A rs2343376 3.27E-04 Smoking quantity HPOID:0000707 DOID:0050742 C intron GWASdb_trait 14 56645265 rs17762499 C T rs17762499 3.27E-04 Smoking quantity HPOID:0000707 DOID:0050742 C intron GWASdb_trait 14 56651700 rs17689278 G A rs17689278 7.93E-04 Smoking quantity HPOID:0000707 DOID:0050742 G intron GWASdb_trait 14 56683530 rs1479748 G A rs1479748 6.56E-04 Schizophrenia HPOID:0100753 DOID:5419 C intron GWASdb_trait 14 56721596 rs242581 C T rs242581 5.33E-05 Cisplatin and carboplatin cytotoxicity, in blood cell lines HPOID:0100526|HPOID:0012288|HPOID:0010788 DOID:9256|DOID:11934|DOID:2998|DOID:1324 A intron GWASdb_trait 14 56736585 rs12894473 T G rs12894473 4.67E-04 Myopia (pathological) HPOID:0000545 DOID:11830 T intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000139946.9 PELI2 614798