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: 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: 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: 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: 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: 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: rs1554064102
rs1554064102 		0.925 0.080 5 37148216 frameshift variant -/C ins
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: rs1554064102
rs1554064102 		0.925 0.080 5 37148216 frameshift variant -/C ins
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 1.000 1 2015 2015
dbSNP: rs1554084360
rs1554084360 		1.000 5 37184955 frameshift variant T/- delins
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 1.000 1 2018 2018
dbSNP: rs1561376123
rs1561376123 		0.925 0.080 5 37139371 splice acceptor variant C/G snv
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: rs1561376123
rs1561376123 		0.925 0.080 5 37139371 splice acceptor variant C/G snv
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 1.000 1 2012 2012
dbSNP: rs1561458987
rs1561458987 		0.925 0.080 5 37164272 splice donor variant C/T snv
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: rs1561458987
rs1561458987 		0.925 0.080 5 37164272 splice donor variant C/T snv
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 1.000 1 2012 2012
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: rs730882217
rs730882217 		0.925 5 37153962 frameshift variant TC/- del
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 1.000 1 2015 2015
dbSNP: rs759649053
rs759649053 		1.000 5 37183538 missense variant T/C;G snv 4.0E-06; 4.0E-06
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 1.000 1 2018 2018
dbSNP: rs760906097
rs760906097 		1.000 5 37221459 missense variant G/A;T snv 3.5E-05
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 1.000 1 2015 2015
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: rs775263897
rs775263897 		0.882 0.080 5 37148217 frameshift variant T/-;TT delins 4.0E-06; 8.0E-06
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 1.000 1 2015 2015