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: 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: 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: 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: 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: 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: 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: 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: rs768675259
rs768675259 		1.000 5 37170233 frameshift variant CA/- delins 7.0E-06
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 1.000 1 2015 2015
dbSNP: rs779680371
rs779680371 		1.000 5 37244435 frameshift variant A/-;AA delins 1.4E-05
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 1.000 1 2015 2015
dbSNP: rs794727154
rs794727154 		1.000 5 37221446 missense variant G/A snv 1.4E-05
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 1.000 1 2018 2018
dbSNP: rs863225152
rs863225152 		1.000 5 37153784 stop gained G/A snv
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: rs863225155
rs863225155 		1.000 5 37138742 stop gained C/A snv 7.0E-06
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 1.000 1 2015 2015
dbSNP: rs863225156
rs863225156 		1.000 5 37168834 frameshift variant G/- delins
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 1.000 1 2015 2015
dbSNP: rs863225157
rs863225157 		1.000 5 37198737 frameshift variant TA/- delins
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 1.000 1 2015 2015