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: rs41268753
rs41268753
0.882 0.200 1 24342967 missense variant C/T snv 2.3E-02 2.3E-02
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.730 0.750 4 2016 2018
dbSNP: rs797044857
rs797044857
1 24354474 missense variant C/G snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 3 2014 2018
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: rs770938921
rs770938921
1.000 0.200 1 24342712 missense variant C/T snv 2.4E-05 7.0E-06
CUI: C4551864
Disease: VAN DER WOUDE SYNDROME 1
VAN DER WOUDE SYNDROME 1
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; 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
dbSNP: rs41268753
rs41268753
0.882 0.200 1 24342967 missense variant C/T snv 2.3E-02 2.3E-02
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.030 0.667 3 2016 2018
dbSNP: rs41268753
rs41268753
0.882 0.200 1 24342967 missense variant C/T snv 2.3E-02 2.3E-02
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.030 0.667 3 2016 2018
dbSNP: rs141193530
rs141193530
1.000 0.080 1 24342969 missense variant C/G snv 5.1E-03 5.3E-03
CUI: C0699893
Disease: Skin carcinoma
Skin carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2486668
rs2486668
0.807 0.320 1 24331573 missense variant C/G snv 0.16 0.17
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs2486668
rs2486668
0.807 0.320 1 24331573 missense variant C/G snv 0.16 0.17
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2486668
rs2486668
0.807 0.320 1 24331573 missense variant C/G snv 0.16 0.17
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2486668
rs2486668
0.807 0.320 1 24331573 missense variant C/G snv 0.16 0.17
CUI: C4551722
Disease: Encephalocele
Encephalocele
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2486668
rs2486668
0.807 0.320 1 24331573 missense variant C/G snv 0.16 0.17
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs2486668
rs2486668
0.807 0.320 1 24331573 missense variant C/G snv 0.16 0.17
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs534391501
rs534391501
0.925 0.200 1 24334661 missense variant G/A snv 3.1E-04 1.7E-04
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs534391501
rs534391501
0.925 0.200 1 24334661 missense variant G/A snv 3.1E-04 1.7E-04
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 2017 2017
dbSNP: rs545809
rs545809
0.882 0.200 1 24364274 missense variant T/A snv 0.29 0.26
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs545809
rs545809
0.882 0.200 1 24364274 missense variant T/A snv 0.29 0.26
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs545809
rs545809
0.882 0.200 1 24364274 missense variant T/A snv 0.29 0.26
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 < 0.001 1 2016 2016