Disease associated variation - ClinVar |
Allele ID | Type | Name | RS#dbSNP | Phenotype IDs | Chromosome | Start | Stop | Reference | Alternate |
45854 | single nucleotide variant | NM_145725.2(TRAF3):c.352C>T (p.Arg118Trp) | 143813189 | MedGen:C3553868,OMIM:614849 | 14 | 103342015 | 103342015 | C | T |
45854 | single nucleotide variant | NM_145725.2(TRAF3):c.352C>T (p.Arg118Trp) | 143813189 | MedGen:C3553868,OMIM:614849 | 14 | 102875678 | 102875678 | C | T |
247093 | single nucleotide variant | NM_145725.2(TRAF3):c.449G>A (p.Arg150His) | 141920055 | MedGen:CN169374 | 14 | 102876404 | 102876404 | G | A |
247093 | single nucleotide variant | NM_145725.2(TRAF3):c.449G>A (p.Arg150His) | 141920055 | MedGen:CN169374 | 14 | 103342741 | 103342741 | G | A |