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: rs1187142382
rs1187142382 		0.925 0.080 5 37238887 frameshift variant TT/- del
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 0
dbSNP: rs1187142382
rs1187142382 		0.925 0.080 5 37238887 frameshift variant TT/- del
CUI: C2745997
Disease: OROFACIODIGITAL SYNDROME VI
OROFACIODIGITAL SYNDROME VI 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1228082731
rs1228082731 		0.925 0.080 5 37201690 frameshift variant AG/- delins 7.0E-06
CUI: C2745997
Disease: OROFACIODIGITAL SYNDROME VI
OROFACIODIGITAL SYNDROME VI 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1228082731
rs1228082731 		0.925 0.080 5 37201690 frameshift variant AG/- delins 7.0E-06
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 0
dbSNP: rs1242532564
rs1242532564 		1.000 5 37224609 frameshift variant AG/- del
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 0
dbSNP: rs1327245073
rs1327245073 		1.000 5 37226718 frameshift variant C/- del 6.6E-06 7.0E-06
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 0
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
dbSNP: rs1345413118
rs1345413118 		0.925 0.080 5 37125255 stop gained T/A;C snv
CUI: C2745997
Disease: OROFACIODIGITAL SYNDROME VI
OROFACIODIGITAL SYNDROME VI 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1381740657
rs1381740657 		0.925 0.080 5 37169324 stop gained G/A snv 4.0E-06 1.4E-05
CUI: C2745997
Disease: OROFACIODIGITAL SYNDROME VI
OROFACIODIGITAL SYNDROME VI 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1381740657
rs1381740657 		0.925 0.080 5 37169324 stop gained G/A snv 4.0E-06 1.4E-05
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 0
dbSNP: rs139675596
rs139675596 		0.925 0.080 5 37165595 stop gained G/A snv 5.7E-05
CUI: C2745997
Disease: OROFACIODIGITAL SYNDROME VI
OROFACIODIGITAL SYNDROME VI 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1434631255
rs1434631255 		1.000 0.080 5 37198824 missense variant G/A snv 4.0E-06
CUI: C2745997
Disease: OROFACIODIGITAL SYNDROME VI
OROFACIODIGITAL SYNDROME VI 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1482303814
rs1482303814 		1.000 5 37125344 stop gained C/T snv 7.0E-06
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 0
dbSNP: rs1482303814
rs1482303814 		1.000 5 37125344 stop gained C/T snv 7.0E-06
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1554050342
rs1554050342 		1.000 5 37122451 frameshift variant T/- delins
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 0
dbSNP: rs1554068790
rs1554068790 		1.000 5 37157690 frameshift variant GG/- delins
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 0
dbSNP: rs1554083251
rs1554083251 		1.000 5 37183290 frameshift variant -/T delins
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 0
dbSNP: rs1561231553
rs1561231553 		1.000 0.080 5 37063789 splice acceptor variant G/C snv
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: rs1561584225
rs1561584225 		0.925 0.080 5 37201691 frameshift variant G/- del
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 0
dbSNP: rs1561584225
rs1561584225 		0.925 0.080 5 37201691 frameshift variant G/- del
CUI: C2745997
Disease: OROFACIODIGITAL SYNDROME VI
OROFACIODIGITAL SYNDROME VI 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 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: rs367543062
rs367543062 		0.925 0.080 5 37167046 splice donor variant C/T snv 1.2E-05
CUI: C2745997
Disease: OROFACIODIGITAL SYNDROME VI
OROFACIODIGITAL SYNDROME VI 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs367543062
rs367543062 		0.925 0.080 5 37167046 splice donor variant C/T snv 1.2E-05
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 0
dbSNP: rs367543063
rs367543063 		1.000 5 37183377 stop gained G/A;C snv 4.0E-06
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.700 0