Disease associated variation - ClinVar |
Allele ID | Type | Name | RS#dbSNP | Phenotype IDs | Chromosome | Start | Stop | Reference | Alternate |
222930 | single nucleotide variant | NM_005879.2(TRAIP):c.553C>T (p.Arg185Ter) | 767664526 | MedGen:CN235015,OMIM:616777 | 3 | 49841890 | 49841890 | G | A |
222930 | single nucleotide variant | NM_005879.2(TRAIP):c.553C>T (p.Arg185Ter) | 767664526 | MedGen:CN235015,OMIM:616777 | 3 | 49879323 | 49879323 | G | A |
222931 | single nucleotide variant | NM_005879.2(TRAIP):c.52C>T (p.Arg18Cys) | 864622784 | MedGen:CN235015,OMIM:616777 | 3 | 49893835 | 49893835 | G | A |
222931 | single nucleotide variant | NM_005879.2(TRAIP):c.52C>T (p.Arg18Cys) | 864622784 | MedGen:CN235015,OMIM:616777 | 3 | 49856402 | 49856402 | G | A |