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: rs797045786
rs797045786 		1.000 0.080 5 37063841 frameshift variant -/A delins
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
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: rs797045787
rs797045787 		1.000 0.080 5 37064751 frameshift variant -/CT delins
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs797045785
rs797045785 		1.000 0.080 5 37063837 frameshift variant -/G delins
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs863225161
rs863225161 		1.000 5 37206215 frameshift variant -/T ins
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 1.000 1 2015 2015
dbSNP: rs1554083251
rs1554083251 		1.000 5 37183290 frameshift variant -/T delins
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 0
dbSNP: rs1561655920
rs1561655920 		0.925 0.080 5 37224277 frameshift variant -/T delins
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 0
dbSNP: rs1561655920
rs1561655920 		0.925 0.080 5 37224277 frameshift variant -/T delins
CUI: C2745997
Disease: OROFACIODIGITAL SYNDROME VI
OROFACIODIGITAL SYNDROME VI 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
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: 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: rs777686211
rs777686211 		0.851 0.200 5 37226776 frameshift variant A/-;AA delins 1.8E-04
CUI: C0022346
Disease: Icterus
Icterus 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs777686211
rs777686211 		0.851 0.200 5 37226776 frameshift variant A/-;AA delins 1.8E-04
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs777686211
rs777686211 		0.851 0.200 5 37226776 frameshift variant A/-;AA delins 1.8E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
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: 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: 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: 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: rs749523755
rs749523755 		0.882 0.080 5 37157810 stop gained A/T snv 2.4E-05 7.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs749523755
rs749523755 		0.882 0.080 5 37157810 stop gained A/T snv 2.4E-05 7.0E-06
CUI: C0022346
Disease: Icterus
Icterus 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs587784056
rs587784056 		1.000 0.080 5 37064776 frameshift variant AA/- delins
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0