Disease associated variation - ClinVar | Allele ID | Type | Name | RS#dbSNP | Phenotype IDs | Chromosome | Start | Stop | Reference | Alternate | 97494 | single nucleotide variant | NM_030912.2(TRIM8):c.1561G>T (p.Val521Phe) | 386352377 | MedGen:CN221809 | 10 | 104417016 | 104417016 | G | T | 97494 | single nucleotide variant | NM_030912.2(TRIM8):c.1561G>T (p.Val521Phe) | 386352377 | MedGen:CN221809 | 10 | 102657259 | 102657259 | G | 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 | 10 | 104413385 | rs12764388 | G | A | rs12764388 | 1.25E-04 | | | Stroke | HPOID:0001297 | DOID:6713 | G | intron | GWASdb_trait | 10 | 104414221 | rs3850699 | A | G | rs3850699 | 1.04E-04 | | | Bipolar disorder | HPOID:0007302 | DOID:3312 | T | intron | GWASdb_trait | 10 | 104414221 | rs3850699 | A | G | rs3850699 | 5.00E-10 | | | Prostate cancer | HPOID:0012125 | DOID:10283 | T | intron | GWASdb_trait | |
Disease associated variation - OMIM | Ensembl_gene_ID | Approved Gene Symbol | MIM Number | ENSG00000171206.13 | TRIM8 | 606125 | |