DNAL1, dynein axonemal light chain 1, 83544

N. diseases: 45; N. variants: 3
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: rs387907021
rs387907021 		0.925 0.160 14 73689432 missense variant A/G snv
CUI: C3151460
Disease: CILIARY DYSKINESIA, PRIMARY, 16
CILIARY DYSKINESIA, PRIMARY, 16 		0.800 1.000 1 2011 2011
dbSNP: rs387907021
rs387907021 		0.925 0.160 14 73689432 missense variant A/G snv
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 1.000 1 2011 2011
dbSNP: rs45508195
rs45508195 		14 73662242 intron variant A/G snv 0.27
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs876657637
rs876657637 		1.000 14 73671556 frameshift variant TATCTTT/- delins 1.4E-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 2011 2011
dbSNP: rs387907021
rs387907021 		0.925 0.160 14 73689432 missense variant A/G 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: rs876657637
rs876657637 		1.000 14 73671556 frameshift variant TATCTTT/- delins 1.4E-05
CUI: C3151460
Disease: CILIARY DYSKINESIA, PRIMARY, 16
CILIARY DYSKINESIA, PRIMARY, 16 		0.700 0