Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1559662068
rs1559662068 		0.925 3 9741340 frameshift variant AG/T delins
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.700 0
dbSNP: rs1559662068
rs1559662068 		0.925 3 9741340 frameshift variant AG/T delins
CUI: C4310617
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS 		0.700 0
dbSNP: rs1559662068
rs1559662068 		0.925 3 9741340 frameshift variant AG/T delins
CUI: C3163801
Disease: Abnormality of aortic arch
Abnormality of aortic arch 		0.700 0
dbSNP: rs886041090
rs886041090 		1.000 3 9739449 frameshift variant TG/- delins
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs886041090
rs886041090 		1.000 3 9739449 frameshift variant TG/- delins
CUI: C4310617
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS 		0.700 0
dbSNP: rs1057519516
rs1057519516 		1.000 3 9734707 frameshift variant T/- del
CUI: C4310617
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS 		0.700 0