rs1553544133, SATB2

N. diseases: 6
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Abnormality of the dentition
CUI: C0262444
Disease: Abnormality of the dentition
16 0.851 0.200 2 199308845 frameshift variant TC/- delins 0.700 0
Clinodactyly of the 5th finger
CUI: C1850049
Disease: Clinodactyly of the 5th finger
39 0.851 0.200 2 199308845 frameshift variant TC/- delins 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.851 0.200 2 199308845 frameshift variant TC/- delins 0.700 0
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 0.851 0.200 2 199308845 frameshift variant TC/- delins 0.700 0
Long narrow head
CUI: C0221358
Disease: Long narrow head
26 0.851 0.200 2 199308845 frameshift variant TC/- delins 0.700 0
Uranostaphyloschisis
CUI: C2981150
Disease: Uranostaphyloschisis
75 0.851 0.200 2 199308845 frameshift variant TC/- delins 0.700 0