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: rs1561231553
rs1561231553 		1.000 0.080 5 37063789 splice acceptor variant G/C snv
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs727503771
rs727503771 		1.000 0.080 5 37063829 frameshift variant GAAGAAGGGGAGGTTTCAGCTAGCACAAATGCTCGGAA/- delins
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs797045785
rs797045785 		1.000 0.080 5 37063837 frameshift variant -/G delins
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs797045786
rs797045786 		1.000 0.080 5 37063841 frameshift variant -/A delins
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587784052
rs587784052 		1.000 0.080 5 37064642 frameshift variant CACAAATTGCAAGAGTAGT/- del
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587784053
rs587784053 		1.000 0.080 5 37064650 missense variant G/C snv
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs797045787
rs797045787 		1.000 0.080 5 37064751 frameshift variant -/CT delins
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587784055
rs587784055 		1.000 0.080 5 37064752 frameshift variant GGTGCCT/- delins
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs797045788
rs797045788 		1.000 0.080 5 37064773 protein altering variant ATTAA/TT delins
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587784056
rs587784056 		1.000 0.080 5 37064776 frameshift variant AA/- delins
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs797045789
rs797045789 		1.000 0.080 5 37064819 frameshift variant CTAATAA/ATT delins
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs398124474
rs398124474 		1.000 0.080 5 37064854 stop gained C/T snv
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs300053
rs300053 		5 37075443 regulatory region variant T/G snv 0.58
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs374144275
rs374144275 		0.925 0.080 5 37120306 stop gained G/A snv 3.1E-05 1.9E-04
CUI: C2745997
Disease: OROFACIODIGITAL SYNDROME VI
OROFACIODIGITAL SYNDROME VI 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2015 2015
dbSNP: rs374144275
rs374144275 		0.925 0.080 5 37120306 stop gained G/A snv 3.1E-05 1.9E-04
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 1.000 1 2015 2015
dbSNP: rs863225154
rs863225154 		0.925 0.160 5 37122429 splice donor variant C/A;T snv 8.0E-06; 4.0E-06
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 1.000 1 2015 2015
dbSNP: rs863225154
rs863225154 		0.925 0.160 5 37122429 splice donor variant C/A;T snv 8.0E-06; 4.0E-06
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs1554050342
rs1554050342 		1.000 5 37122451 frameshift variant T/- delins
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 0
dbSNP: rs1345413118
rs1345413118 		0.925 0.080 5 37125255 stop gained T/A;C snv
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 0
dbSNP: rs1345413118
rs1345413118 		0.925 0.080 5 37125255 stop gained T/A;C snv
CUI: C2745997
Disease: OROFACIODIGITAL SYNDROME VI
OROFACIODIGITAL SYNDROME VI 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs770758833
rs770758833 		1.000 5 37125315 frameshift variant C/- delins 4.0E-06
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 1.000 1 2015 2015
dbSNP: rs863225153
rs863225153 		1.000 5 37125324 stop gained C/A snv
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 1.000 1 2015 2015
dbSNP: rs141507441
rs141507441 		1.000 5 37125330 stop gained G/A snv 3.2E-05 4.2E-05
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 1.000 1 2015 2015
dbSNP: rs1482303814
rs1482303814 		1.000 5 37125344 stop gained C/T snv 7.0E-06
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 0
dbSNP: rs1482303814
rs1482303814 		1.000 5 37125344 stop gained C/T snv 7.0E-06
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0