Disease associated variation - ClinVar | Allele ID | Type | Name | RS#dbSNP | Phenotype IDs | Chromosome | Start | Stop | Reference | Alternate | 106733 | single nucleotide variant | NM_019045.4(WDR44):c.1837C>T (p.Leu613Phe) | 483352750 | MedGen:CN221809 | X | 117566843 | 117566843 | C | T | 106733 | single nucleotide variant | NM_019045.4(WDR44):c.1837C>T (p.Leu613Phe) | 483352750 | MedGen:CN221809 | X | 118432880 | 118432880 | C | T | |