Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057520063
rs1057520063
GLI3
0.763 0.200 7 41964641 frameshift variant -/A delins
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		0.700 1.000 3 2010 2016
dbSNP: rs1057520063
rs1057520063
GLI3
0.763 0.200 7 41964641 frameshift variant -/A delins
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		0.700 1.000 3 2010 2016
dbSNP: rs1057520063
rs1057520063
GLI3
0.763 0.200 7 41964641 frameshift variant -/A delins
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.700 0
dbSNP: rs1057520063
rs1057520063
GLI3
0.763 0.200 7 41964641 frameshift variant -/A delins
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita 		0.700 0
dbSNP: rs1057520063
rs1057520063
GLI3
0.763 0.200 7 41964641 frameshift variant -/A delins
CUI: C1578482
Disease: Valgus deformities of feet
Valgus deformities of feet 		0.700 0
dbSNP: rs1057520063
rs1057520063
GLI3
0.763 0.200 7 41964641 frameshift variant -/A delins
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.700 0
dbSNP: rs1057520063
rs1057520063
GLI3
0.763 0.200 7 41964641 frameshift variant -/A delins
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		0.700 0
dbSNP: rs1057520063
rs1057520063
GLI3
0.763 0.200 7 41964641 frameshift variant -/A delins
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		0.700 0
dbSNP: rs1057520063
rs1057520063
GLI3
0.763 0.200 7 41964641 frameshift variant -/A delins
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		0.700 0
dbSNP: rs1057520063
rs1057520063
GLI3
0.763 0.200 7 41964641 frameshift variant -/A delins
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		0.700 0
dbSNP: rs1057520063
rs1057520063
GLI3
0.763 0.200 7 41964641 frameshift variant -/A delins
CUI: C0016202
Disease: Flatfoot
Flatfoot 		0.700 0
dbSNP: rs1057520063
rs1057520063
GLI3
0.763 0.200 7 41964641 frameshift variant -/A delins
CUI: C2112942
Disease: Preaxial foot polydactyly
Preaxial foot polydactyly 		0.700 0
dbSNP: rs1057520063
rs1057520063
GLI3
0.763 0.200 7 41964641 frameshift variant -/A delins
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers 		0.700 0