rs374319146, TBCK

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.
Dysmorphism
CUI: C1737329
Disease: Dysmorphism
16 0.851 0.080 4 106194717 splice donor variant C/A;T snv 4.3E-06; 8.7E-06 0.700 0
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.851 0.080 4 106194717 splice donor variant C/A;T snv 4.3E-06; 8.7E-06 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.851 0.080 4 106194717 splice donor variant C/A;T snv 4.3E-06; 8.7E-06 0.700 0
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
11 0.851 0.080 4 106194717 splice donor variant C/A;T snv 4.3E-06; 8.7E-06 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.851 0.080 4 106194717 splice donor variant C/A;T snv 4.3E-06; 8.7E-06 0.700 0
Ventral septal defect (VSD)
CUI: C3150353
Disease: Ventral septal defect (VSD)
1 0.851 0.080 4 106194717 splice donor variant C/A;T snv 4.3E-06; 8.7E-06 0.700 0