Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 171311 single nucleotide variant NM_138391.4(TMEM183A):c.708+1G>A 193920903 MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 1 203016141 203016141 G A 171311 single nucleotide variant NM_138391.4(TMEM183A):c.708+1G>A 193920903 MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 1 202985269 202985269 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 1 202992954 rs1046529 T C rs1046529 9.44E-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 T UTR-3 GWASdb_drug 1 202992954 rs1046529 T C rs1046529 9.44E-05 Cisplatin and carboplatin cytotoxicity, in blood cell lines HPOID:0100526|HPOID:0012288|HPOID:0010788 DOID:9256|DOID:11934|DOID:2998|DOID:1324 T UTR-3 GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000163444.11 TMEM183B 611365