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: rs143740376
rs143740376 		0.925 0.160 21 32609853 stop gained G/A snv 7.6E-05 8.4E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2013 2013
dbSNP: rs202094637
rs202094637 		0.925 0.160 21 32602299 stop gained G/A;C snv 4.0E-06; 8.0E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2013 2013
dbSNP: rs140727644
rs140727644 		1.000 21 32604237 missense variant T/C snv 1.9E-04 1.9E-04
CUI: C3809684
Disease: CILIARY DYSKINESIA, PRIMARY, 26
CILIARY DYSKINESIA, PRIMARY, 26 		0.700 0
dbSNP: rs143740376
rs143740376 		0.925 0.160 21 32609853 stop gained G/A snv 7.6E-05 8.4E-05
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs143740376
rs143740376 		0.925 0.160 21 32609853 stop gained G/A snv 7.6E-05 8.4E-05
CUI: C3809684
Disease: CILIARY DYSKINESIA, PRIMARY, 26
CILIARY DYSKINESIA, PRIMARY, 26 		0.700 0
dbSNP: rs202094637
rs202094637 		0.925 0.160 21 32602299 stop gained G/A;C snv 4.0E-06; 8.0E-05
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs202094637
rs202094637 		0.925 0.160 21 32602299 stop gained G/A;C snv 4.0E-06; 8.0E-05
CUI: C3809684
Disease: CILIARY DYSKINESIA, PRIMARY, 26
CILIARY DYSKINESIA, PRIMARY, 26 		0.700 0
dbSNP: rs398122401
rs398122401 		0.925 0.160 21 32601941 frameshift variant AATA/- delins 4.0E-06
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs398122401
rs398122401 		0.925 0.160 21 32601941 frameshift variant AATA/- delins 4.0E-06
CUI: C3809684
Disease: CILIARY DYSKINESIA, PRIMARY, 26
CILIARY DYSKINESIA, PRIMARY, 26 		0.700 0
dbSNP: rs746361802
rs746361802 		21 32603260 frameshift variant -/GCCTCTGCCT delins 1.8E-04; 2.4E-05 2.1E-04
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: rs76974938
rs76974938 		1.000 0.080 21 32609946 missense variant C/T snv 1.3E-04 5.5E-04
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs76974938
rs76974938 		1.000 0.080 21 32609946 missense variant C/T snv 1.3E-04 5.5E-04
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs76974938
rs76974938 		1.000 0.080 21 32609946 missense variant C/T snv 1.3E-04 5.5E-04
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2017 2017