| Disease associated variation - ClinVar |
| Allele ID | Type | Name | RS#dbSNP | Phenotype IDs | Chromosome | Start | Stop | Reference | Alternate |
|---|
| 167331 | duplication | NC_000021.9:g.43401987_43433979dup31993 | -1 | MedGen:CN220684 | 21 | 43401987 | 43433979 | na | na |
| 167331 | duplication | NC_000021.9:g.43401987_43433979dup31993 | -1 | MedGen:CN220684 | 21 | 44821867 | 44853859 | na | na |
| 187940 | single nucleotide variant | NM_173354.4(SIK1):c.859C>A (p.Pro287Thr) | 786205159 | MedGen:CN230133,OMIM:616341 | 21 | 44840227 | 44840227 | G | T |
| 187940 | single nucleotide variant | NM_173354.4(SIK1):c.859C>A (p.Pro287Thr) | 786205159 | MedGen:CN230133,OMIM:616341 | 21 | 43420347 | 43420347 | G | T |
| 187941 | single nucleotide variant | NM_173354.4(SIK1):c.1039G>T (p.Glu347Ter) | 786205160 | MedGen:CN230133,OMIM:616341 | 21 | 44839819 | 44839819 | C | A |
| 187941 | single nucleotide variant | NM_173354.4(SIK1):c.1039G>T (p.Glu347Ter) | 786205160 | MedGen:CN230133,OMIM:616341 | 21 | 43419939 | 43419939 | C | A |
| 187942 | single nucleotide variant | NM_173354.4(SIK1):c.1840C>T (p.Gln614Ter) | 786205161 | MedGen:CN230133,OMIM:616341 | 21 | 43417679 | 43417679 | G | A |
| 187942 | single nucleotide variant | NM_173354.4(SIK1):c.1840C>T (p.Gln614Ter) | 786205161 | MedGen:CN230133,OMIM:616341 | 21 | 44837559 | 44837559 | G | A |
| 187943 | single nucleotide variant | NM_173354.4(SIK1):c.1897C>T (p.Gln633Ter) | 786205162 | MedGen:CN230133,OMIM:616341 | 21 | 44837502 | 44837502 | G | A |
| 187943 | single nucleotide variant | NM_173354.4(SIK1):c.1897C>T (p.Gln633Ter) | 786205162 | MedGen:CN230133,OMIM:616341 | 21 | 43417622 | 43417622 | G | A |
| 187944 | single nucleotide variant | NM_173354.4(SIK1):c.1906G>A (p.Gly636Ser) | 786205163 | MedGen:CN230133,OMIM:616341 | 21 | 43417613 | 43417613 | C | T |
| 187944 | single nucleotide variant | NM_173354.4(SIK1):c.1906G>A (p.Gly636Ser) | 786205163 | MedGen:CN230133,OMIM:616341 | 21 | 44837493 | 44837493 | C | T |
| 269845 | single nucleotide variant | NM_173354.4(SIK1):c.1210G>A (p.Glu404Lys) | 150822645 | MedGen:CN169374 | 21 | 44839268 | 44839268 | C | T |
| 269845 | single nucleotide variant | NM_173354.4(SIK1):c.1210G>A (p.Glu404Lys) | 150822645 | MedGen:CN169374 | 21 | 43419388 | 43419388 | C | T |