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: 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
dbSNP: rs367543061
rs367543061 		1.000 5 37187488 missense variant G/A snv 1.6E-05; 4.0E-06 2.1E-05
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.800 1.000 4 2012 2015
dbSNP: rs375009168
rs375009168 		0.925 0.080 5 37201718 stop gained G/A;T snv 8.0E-06
CUI: C2745997
Disease: OROFACIODIGITAL SYNDROME VI
OROFACIODIGITAL SYNDROME VI 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 4 2011 2015
dbSNP: rs869312898
rs869312898 		1.000 0.080 5 37187460 missense variant T/C snv 7.0E-06
CUI: C2745997
Disease: OROFACIODIGITAL SYNDROME VI
OROFACIODIGITAL SYNDROME VI 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 4 2011 2015
dbSNP: rs606231261
rs606231261 		1.000 0.080 5 37187795 missense variant C/G snv 8.0E-06
CUI: C2745997
Disease: OROFACIODIGITAL SYNDROME VI
OROFACIODIGITAL SYNDROME VI 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 1 2011 2011
dbSNP: rs1554117456
rs1554117456 		1.000 5 37245569 stop gained C/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 6 2011 2015
dbSNP: rs1554117456
rs1554117456 		1.000 5 37245569 stop gained C/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 6 2011 2015
dbSNP: rs1554117456
rs1554117456 		1.000 5 37245569 stop gained C/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 6 2011 2015
dbSNP: rs606231259
rs606231259 		0.925 0.080 5 37244452 frameshift variant T/- del 7.0E-05
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 1.000 5 2014 2018
dbSNP: rs149170427
rs149170427 		0.925 0.080 5 37198797 missense variant G/A snv 1.6E-05 2.1E-05
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 1.000 4 2013 2017
dbSNP: rs606231259
rs606231259 		0.925 0.080 5 37244452 frameshift variant T/- del 7.0E-05
CUI: C2745997
Disease: OROFACIODIGITAL SYNDROME VI
OROFACIODIGITAL SYNDROME VI 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 4 2014 2017
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: 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: rs749523755
rs749523755 		0.882 0.080 5 37157810 stop gained A/T snv 2.4E-05 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 2 2015 2015
dbSNP: rs749523755
rs749523755 		0.882 0.080 5 37157810 stop gained A/T snv 2.4E-05 7.0E-06
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 1.000 2 2015 2015
dbSNP: rs777686211
rs777686211 		0.851 0.200 5 37226776 frameshift variant A/-;AA delins 1.8E-04
CUI: C2745997
Disease: OROFACIODIGITAL SYNDROME VI
OROFACIODIGITAL SYNDROME VI 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 2 2015 2017
dbSNP: rs777686211
rs777686211 		0.851 0.200 5 37226776 frameshift variant A/-;AA delins 1.8E-04
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 1.000 2 2015 2017
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: 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: 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