Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 162295 copy number loss GRCh38/hg38 2q21.3(chr2:135479205-135518855)x1 -1 - 2 136236775 136276425 na na 162295 copy number loss GRCh38/hg38 2q21.3(chr2:135479205-135518855)x1 -1 - 2 135479205 135518855 na na 162295 copy number loss GRCh38/hg38 2q21.3(chr2:135479205-135518855)x1 -1 - 2 135953245 135992895 na na 166664 duplication NC_000002.12:g.135214523_135473889dup259367 -1 MedGen:CN220685 2 135214523 135473889 na na 166664 duplication NC_000002.12:g.135214523_135473889dup259367 -1 MedGen:CN220685 2 135972093 136231459 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 2 135967778 rs6430563 A G rs6430563 5.19E-05 Personality dimensions HPOID:0012075 DOID:1510 G intron GWASdb_trait 2 136002500 rs1900741 C T rs1900741 3.13E-05 Paget's disease HPOID:0000924 DOID:5408 T intron GWASdb_trait 2 136092061 rs1561277 C A rs1561277 4.95E-06 Paget's disease HPOID:0000924 DOID:5408 A intron GWASdb_trait 2 136128254 rs1469950 A G rs1469950 7.06E-05 Personality dimensions HPOID:0012075 DOID:1510 A intron GWASdb_trait 2 136151774 rs16831601 C T rs16831601 9.76E-05 Personality dimensions HPOID:0012075 DOID:1510 T,C intron GWASdb_trait 2 136264631 rs16831751 A G rs16831751 4.54E-05 Personality dimensions HPOID:0012075 DOID:1510 A intron GWASdb_trait 2 136264631 rs16831751 A G rs16831751 8.78E-04 Depression (quantitative trait) HPOID:0000716 DOID:1596 A intron GWASdb_trait 2 136288273 rs3806502 C T rs3806502 7.59E-05 Triglycerides HPOID:0003119 DOID:3393|DOID:3146|DOID:2349 A intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000121988.17 ZRANB3 615655