Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 23221 single nucleotide variant TSG101, VAL-ALA, 1162T-C -1 MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED CT:C0346153 na -1 -1 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 11 18509993 rs16935476 C T rs16935476 8.63E-05 Platelet counts HPOID:0011873 DOID:74|DOID:526|DOID:3393 C intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000074319.12 TSG101 601387