Disease associated variation - ClinVar |
Allele ID | Type | Name | RS#dbSNP | Phenotype IDs | Chromosome | Start | Stop | Reference | Alternate |
204077 | single nucleotide variant | NM_025160.6(WDR26):c.612G>T (p.Leu204Phe) | 796052140 | MedGen:C0023976,SNOMED CT:C0023976 | 1 | 224619194 | 224619194 | C | A |
204077 | single nucleotide variant | NM_025160.6(WDR26):c.612G>T (p.Leu204Phe) | 796052140 | MedGen:C0023976,SNOMED CT:C0023976 | 1 | 224431492 | 224431492 | C | A |
204078 | single nucleotide variant | NM_001115113.2(WDR26):c.59G>A (p.Gly20Glu) | 796052210 | MedGen:C0023976,SNOMED CT:C0023976 | 1 | 224621749 | 224621749 | C | T |
204078 | single nucleotide variant | NM_001115113.2(WDR26):c.59G>A (p.Gly20Glu) | 796052210 | MedGen:C0023976,SNOMED CT:C0023976 | 1 | 224434047 | 224434047 | C | T |