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: 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
dbSNP: rs312262812
rs312262812 		1.000 0.080 X 13736587 missense variant 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: rs312262813
rs312262813 		1.000 0.080 X 13736590 missense variant 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: rs312262814
rs312262814 		1.000 0.080 X 13736601 missense variant G/A snv
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs312262815
rs312262815 		1.000 0.080 X 13736607 missense variant C/G snv
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs312262816
rs312262816 		1.000 0.080 X 13736609 missense variant C/G snv
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs312262817
rs312262817 		1.000 0.080 X 13736613 stop gained C/A;T snv 5.4E-06
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs312262818
rs312262818 		0.925 0.200 X 13736626 missense variant A/G;T snv 1.1E-05
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs312262819
rs312262819 		1.000 0.080 X 13736640 missense 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: rs312262820
rs312262820 		1.000 0.080 X 13736656 missense variant A/G snv
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs312262821
rs312262821 		1.000 0.080 X 13736656 frameshift variant TGGTTTGGCAAAAGAAAAG/- delins
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs312262822
rs312262822 		1.000 0.080 X 13736678 splice donor variant G/- delins
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs312262823
rs312262823 		1.000 0.080 X 13738844 splice region variant -/G delins
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs312262825
rs312262825 		1.000 0.080 X 13738870 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: rs312262826
rs312262826 		1.000 0.080 X 13738905 stop gained C/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: rs312262827
rs312262827 		1.000 0.080 X 13739032 missense variant G/A snv
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs312262828
rs312262828 		1.000 0.080 X 13738999 splice region variant C/G snv
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0