Disease associated variation - ClinVar |
Allele ID | Type | Name | RS#dbSNP | Phenotype IDs | Chromosome | Start | Stop | Reference | Alternate |
45883 | single nucleotide variant | WDR11, PHE1150LEU | -1 | MedGen:C3540450,OMIM:614858 | na | -1 | -1 | na | na |
45884 | single nucleotide variant | NM_018117.11(WDR11):c.1303G>A (p.Ala435Thr) | 318240760 | MedGen:C3540450,OMIM:614858;MedGen:CN221809 | 10 | 122630690 | 122630690 | G | A |
45884 | single nucleotide variant | NM_018117.11(WDR11):c.1303G>A (p.Ala435Thr) | 318240760 | MedGen:C3540450,OMIM:614858;MedGen:CN221809 | 10 | 120871178 | 120871178 | G | A |
45885 | single nucleotide variant | WDR11, HIS690GLN | -1 | MedGen:C4016965 | na | -1 | -1 | na | na |
79729 | single nucleotide variant | NM_018117.11(WDR11):c.1183C>T (p.Arg395Trp) | 201051480 | MedGen:CN221809 | 10 | 122626269 | 122626269 | C | T |
79729 | single nucleotide variant | NM_018117.11(WDR11):c.1183C>T (p.Arg395Trp) | 201051480 | MedGen:CN221809 | 10 | 120866757 | 120866757 | C | T |
79730 | single nucleotide variant | NM_018117.11(WDR11):c.1343G>A (p.Arg448Gln) | 144440500 | MedGen:CN221809 | 10 | 122630730 | 122630730 | G | A |
79730 | single nucleotide variant | NM_018117.11(WDR11):c.1343G>A (p.Arg448Gln) | 144440500 | MedGen:CN221809 | 10 | 120871218 | 120871218 | G | A |
79731 | single nucleotide variant | NM_018117.11(WDR11):c.2070T>A (p.His690Gln) | 318240761 | MedGen:CN221809 | 10 | 122646297 | 122646297 | T | A |
79731 | single nucleotide variant | NM_018117.11(WDR11):c.2070T>A (p.His690Gln) | 318240761 | MedGen:CN221809 | 10 | 120886785 | 120886785 | T | A |
79732 | single nucleotide variant | NM_018117.11(WDR11):c.2932A>C (p.Lys978Gln) | 144531702 | MedGen:CN221809 | 10 | 122663559 | 122663559 | A | C |
79732 | single nucleotide variant | NM_018117.11(WDR11):c.2932A>C (p.Lys978Gln) | 144531702 | MedGen:CN221809 | 10 | 120904047 | 120904047 | A | C |
79733 | single nucleotide variant | NM_018117.11(WDR11):c.3450T>G (p.Phe1150Leu) | 139007744 | MedGen:CN221809 | 10 | 122666300 | 122666300 | T | G |
79733 | single nucleotide variant | NM_018117.11(WDR11):c.3450T>G (p.Phe1150Leu) | 139007744 | MedGen:CN221809 | 10 | 120906788 | 120906788 | T | G |
247040 | single nucleotide variant | NM_018117.11(WDR11):c.1306A>G (p.Ile436Val) | 34602786 | MedGen:CN169374 | 10 | 120871181 | 120871181 | A | G |
247040 | single nucleotide variant | NM_018117.11(WDR11):c.1306A>G (p.Ile436Val) | 34602786 | MedGen:CN169374 | 10 | 122630693 | 122630693 | A | G |