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: rs1555900734
rs1555900734 		1.000 0.080 X 13736586 protein altering variant -/TAAAAGAGCTGC ins
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs886039856
rs886039856 		1.000 0.080 X 13735297 frameshift variant -/T ins
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs312262862
rs312262862 		1.000 0.080 X 13753383 missense variant GAAGGATG/TTTTTCCT mnv
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs312262894
rs312262894 		1.000 0.120 X 13768063 frameshift variant G/- del
CUI: C2749019
Disease: JOUBERT SYNDROME 10 (disorder)
JOUBERT SYNDROME 10 (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs1555900675
rs1555900675 		1.000 0.080 X 13736476 splice acceptor variant A/- del
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1555904480
rs1555904480 		1.000 0.080 X 13753373 frameshift variant AACTT/- del
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1569162748
rs1569162748 		0.925 0.120 X 13767142 frameshift variant AAATT/- del
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs1569162748
rs1569162748 		0.925 0.120 X 13767142 frameshift variant AAATT/- del
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		Infections; Respiratory Tract Diseases 0.700 0
dbSNP: rs1569162748
rs1569162748 		0.925 0.120 X 13767142 frameshift variant AAATT/- del
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1569162748
rs1569162748 		0.925 0.120 X 13767142 frameshift variant AAATT/- del
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis 		Respiratory Tract Diseases 0.700 0
dbSNP: rs1569162748
rs1569162748 		0.925 0.120 X 13767142 frameshift variant AAATT/- del
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1569162748
rs1569162748 		0.925 0.120 X 13767142 frameshift variant AAATT/- del
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		Respiratory Tract Diseases 0.700 0
dbSNP: rs1569162748
rs1569162748 		0.925 0.120 X 13767142 frameshift variant AAATT/- del
CUI: C0016202
Disease: Flatfoot
Flatfoot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs312262832
rs312262832 		1.000 0.080 X 13739034 splice donor variant T/- del
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs312262837
rs312262837 		1.000 0.080 X 13746395 frameshift variant AAAGC/- del
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs312262849
rs312262849 		1.000 0.080 X 13746837 frameshift variant T/- del
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs312262860
rs312262860 		1.000 0.080 X 13749517 frameshift variant G/- del
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs312262872
rs312262872 		1.000 0.080 X 13756674 frameshift variant C/- del
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs312262873
rs312262873 		1.000 0.080 X 13756675 frameshift variant T/- del
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs312262876
rs312262876 		1.000 0.080 X 13756690 frameshift variant TG/- del
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs312262884
rs312262884 		1.000 0.080 X 13760217 frameshift variant G/- del
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs397507558
rs397507558 		1.000 0.080 X 13746457 splice donor variant TAA/- del
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1555907034
rs1555907034 		X 13760532 frameshift variant T/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 14 2000 2016
dbSNP: rs1555907034
rs1555907034 		X 13760532 frameshift variant T/- delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 14 2000 2016
dbSNP: rs312262830
rs312262830 		0.882 0.160 X 13739017 frameshift variant GAAA/- delins
CUI: C2749019
Disease: JOUBERT SYNDROME 10 (disorder)
JOUBERT SYNDROME 10 (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 2 2008 2014