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: rs1187142382
rs1187142382 		0.925 0.080 5 37238887 frameshift variant TT/- del
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 0
dbSNP: rs1187142382
rs1187142382 		0.925 0.080 5 37238887 frameshift variant TT/- del
CUI: C2745997
Disease: OROFACIODIGITAL SYNDROME VI
OROFACIODIGITAL SYNDROME VI 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1228082731
rs1228082731 		0.925 0.080 5 37201690 frameshift variant AG/- delins 7.0E-06
CUI: C2745997
Disease: OROFACIODIGITAL SYNDROME VI
OROFACIODIGITAL SYNDROME VI 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1228082731
rs1228082731 		0.925 0.080 5 37201690 frameshift variant AG/- delins 7.0E-06
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 0
dbSNP: rs1242532564
rs1242532564 		1.000 5 37224609 frameshift variant AG/- del
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 0
dbSNP: rs1321423759
rs1321423759 		0.925 0.080 5 37244373 splice donor variant A/T snv 1.3E-05
CUI: C2745997
Disease: OROFACIODIGITAL SYNDROME VI
OROFACIODIGITAL SYNDROME VI 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1321423759
rs1321423759 		0.925 0.080 5 37244373 splice donor variant A/T snv 1.3E-05
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 1.000 1 2012 2012
dbSNP: rs1327245073
rs1327245073 		1.000 5 37226718 frameshift variant C/- del 6.6E-06 7.0E-06
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: rs1381740657
rs1381740657 		0.925 0.080 5 37169324 stop gained G/A snv 4.0E-06 1.4E-05
CUI: C2745997
Disease: OROFACIODIGITAL SYNDROME VI
OROFACIODIGITAL SYNDROME VI 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1381740657
rs1381740657 		0.925 0.080 5 37169324 stop gained G/A snv 4.0E-06 1.4E-05
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 0
dbSNP: rs139675596
rs139675596 		0.925 0.080 5 37165595 stop gained G/A snv 5.7E-05
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 1.000 2 2012 2015
dbSNP: rs139675596
rs139675596 		0.925 0.080 5 37165595 stop gained G/A snv 5.7E-05
CUI: C2745997
Disease: OROFACIODIGITAL SYNDROME VI
OROFACIODIGITAL SYNDROME VI 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs141153181
rs141153181 		0.925 0.080 5 37198775 missense variant G/A;T snv 1.6E-05; 8.0E-06
CUI: C2745997
Disease: OROFACIODIGITAL SYNDROME VI
OROFACIODIGITAL SYNDROME VI 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 3 2014 2015
dbSNP: rs141153181
rs141153181 		0.925 0.080 5 37198775 missense variant G/A;T snv 1.6E-05; 8.0E-06
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 1.000 1 2015 2015
dbSNP: rs1414913269
rs1414913269 		0.925 0.080 5 37243012 splice donor variant C/G snv 7.0E-06
CUI: C2745997
Disease: OROFACIODIGITAL SYNDROME VI
OROFACIODIGITAL SYNDROME VI 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1414913269
rs1414913269 		0.925 0.080 5 37243012 splice donor variant C/G snv 7.0E-06
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 1.000 1 2012 2012
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: rs1434631255
rs1434631255 		1.000 0.080 5 37198824 missense variant G/A snv 4.0E-06
CUI: C2745997
Disease: OROFACIODIGITAL SYNDROME VI
OROFACIODIGITAL SYNDROME VI 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs145520487
rs145520487 		1.000 5 37187826 synonymous variant A/G snv 6.5E-04 8.5E-04
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 1.000 1 2015 2015
dbSNP: rs147416429
rs147416429 		1.000 5 37153973 stop gained G/A snv 2.0E-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
dbSNP: rs149170427
rs149170427 		0.925 0.080 5 37198797 missense variant G/A snv 1.6E-05 2.1E-05
CUI: C2745997
Disease: OROFACIODIGITAL SYNDROME VI
OROFACIODIGITAL SYNDROME VI 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 5 2011 2017