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: rs387906922
rs387906922 		1.000 0.160 21 41756757 missense variant A/T snv 4.0E-06
CUI: C1849718
Disease: POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE
POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Stomatognathic Diseases 0.800 1.000 2 2012 2012
dbSNP: rs387906923
rs387906923 		1.000 0.160 21 41756637 missense variant A/T snv
CUI: C1849718
Disease: POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE
POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Stomatognathic Diseases 0.800 1.000 2 2012 2012
dbSNP: rs387906921
rs387906921 		0.925 0.240 21 41743950 stop gained G/A;T snv 8.0E-06
CUI: C1849718
Disease: POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE
POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Stomatognathic Diseases 0.710 1.000 1 2015 2015
dbSNP: rs764278537
rs764278537 		1.000 0.120 21 41751232 missense variant C/T snv 1.2E-05 2.1E-05
CUI: C0406733
Disease: Curly hair-ankyloblepharon-nail dysplasia syndrome
Curly hair-ankyloblepharon-nail dysplasia syndrome 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases 0.700 1.000 2 2013 2015
dbSNP: rs1569100177
rs1569100177 		1.000 0.160 21 41744002 frameshift variant -/A delins
CUI: C1849718
Disease: POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE
POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs199835696
rs199835696 		1.000 0.120 21 41745845 missense variant C/T snv 8.0E-06
CUI: C0406733
Disease: Curly hair-ankyloblepharon-nail dysplasia syndrome
Curly hair-ankyloblepharon-nail dysplasia syndrome 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs387906921
rs387906921 		0.925 0.240 21 41743950 stop gained G/A;T snv 8.0E-06
CUI: C0175697
Disease: Van der Woude syndrome
Van der Woude syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2015 2015