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: 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: 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: 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: 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: 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: 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: rs530569572
rs530569572 		1.000 5 37226811 stop gained A/C snv 8.4E-05 6.3E-05
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 1.000 1 2015 2015
dbSNP: rs770770257
rs770770257 		1.000 5 37180021 stop gained A/C snv 1.5E-05 2.8E-05
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 1.000 1 2018 2018
dbSNP: rs776886962
rs776886962 		1.000 5 37224655 stop gained G/A snv 1.3E-05 6.3E-05
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 1.000 1 2015 2015
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: rs863225158
rs863225158 		1.000 5 37226320 stop gained G/A;C snv
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 1.000 1 2015 2015
dbSNP: rs863225159
rs863225159 		1.000 5 37158258 stop gained C/G;T snv
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 1.000 1 2015 2015
dbSNP: rs863225162
rs863225162 		1.000 5 37206339 stop gained C/A snv
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 1.000 1 2015 2015
dbSNP: rs863225163
rs863225163 		1.000 5 37224679 stop gained G/A snv 3.2E-05 3.5E-05
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 1.000 1 2015 2015
dbSNP: rs863225164
rs863225164 		1.000 5 37221361 stop gained C/T snv
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 1.000 1 2015 2015
dbSNP: rs863225166
rs863225166 		1.000 5 37206423 stop gained G/A;C snv 6.4E-06
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 1.000 1 2015 2015
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