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: rs1555902640
rs1555902640 		0.925 0.200 X 13746360 stop gained -/A delins
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1555902866
rs1555902866 		0.925 0.200 X 13746873 stop gained G/T snv
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1555902866
rs1555902866 		0.925 0.200 X 13746873 stop gained G/T snv
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital 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: rs1569141500
rs1569141500 		1.000 0.160 X 13756669 stop gained C/G snv
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs1569145145
rs1569145145 		1.000 0.080 X 13758396 frameshift variant TT/- delins
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: rs1569163423
rs1569163423 		1.000 0.160 X 13767272 frameshift variant -/T delins
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: rs1569163423
rs1569163423 		1.000 0.160 X 13767272 frameshift variant -/T delins
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs1569164733
rs1569164733 		1.000 0.160 X 13768093 stop gained G/T snv
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs1569164733
rs1569164733 		1.000 0.160 X 13768093 stop gained G/T snv
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: rs1569164829
rs1569164829 		1.000 0.160 X 13768111 stop gained G/T snv
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: rs1569164829
rs1569164829 		1.000 0.160 X 13768111 stop gained G/T snv
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs312262806
rs312262806 		1.000 0.080 X 13735277 frameshift variant AG/- delins
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs312262807
rs312262807 		1.000 0.080 X 13735295 frameshift variant -/A delins
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs312262808
rs312262808 		1.000 0.080 X 13735346 missense variant G/A;C snv
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs312262809
rs312262809 		1.000 0.080 X 13735348 splice donor variant T/C snv
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs312262810
rs312262810 		1.000 0.080 X 13736487 stop gained C/T snv
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs312262811
rs312262811 		1.000 0.080 X 13736525 frameshift variant TGGAG/- delins
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0