Disease: Van der Woude syndrome 2 ×
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: rs879255245
rs879255245 		1.000 0.120 1 24342238 missense variant C/T snv 4.0E-06
CUI: C1847604
Disease: Van der Woude syndrome 2
Van der Woude syndrome 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.800 1.000 1 2014 2014
dbSNP: rs752673677
rs752673677 		1.000 0.120 1 24338044 missense variant G/A snv 2.0E-05 7.0E-06
CUI: C1847604
Disease: Van der Woude syndrome 2
Van der Woude syndrome 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.800 0
dbSNP: rs1553172687
rs1553172687 		1.000 0.120 1 24338050 stop gained G/A snv
CUI: C1847604
Disease: Van der Woude syndrome 2
Van der Woude syndrome 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs879255243
rs879255243 		1.000 0.120 1 24347483 frameshift variant GGAG/- delins
CUI: C1847604
Disease: Van der Woude syndrome 2
Van der Woude syndrome 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs879255244
rs879255244 		1.000 0.120 1 24343026 splice donor variant G/T snv
CUI: C1847604
Disease: Van der Woude syndrome 2
Van der Woude syndrome 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs879255573
rs879255573 		1.000 0.120 1 24339684 frameshift variant -/GT delins
CUI: C1847604
Disease: Van der Woude syndrome 2
Van der Woude syndrome 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs946439477
rs946439477 		1.000 0.120 1 24347483 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C1847604
Disease: Van der Woude syndrome 2
Van der Woude syndrome 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0