RSPH1, radial spoke head component 1, 89765

N. diseases: 47; N. variants: 14
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: rs587777060
rs587777060 		1.000 21 42486428 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C3809634
Disease: CILIARY DYSKINESIA, PRIMARY, 24
CILIARY DYSKINESIA, PRIMARY, 24 		0.800 1.000 2 2013 2014
dbSNP: rs138320978
rs138320978 		0.925 0.160 21 42493049 stop gained C/A;T snv 2.6E-04; 2.0E-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 4 2013 2015
dbSNP: rs151107532
rs151107532 		0.925 0.160 21 42486463 splice acceptor variant T/G snv 3.7E-04 4.7E-04
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 3 2013 2014
dbSNP: rs138320978
rs138320978 		0.925 0.160 21 42493049 stop gained C/A;T snv 2.6E-04; 2.0E-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 1.000 1 2014 2014
dbSNP: rs151107532
rs151107532 		0.925 0.160 21 42486463 splice acceptor variant T/G snv 3.7E-04 4.7E-04
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 2014 2014
dbSNP: rs200382776
rs200382776 		1.000 0.160 21 42477286 splice region variant C/T snv 2.6E-04 6.6E-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: rs587777059
rs587777059 		0.925 0.160 21 42485760 frameshift variant TACT/- delins 8.0E-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 1.000 1 2014 2014
dbSNP: rs587777635
rs587777635 		1.000 21 42486455 stop gained C/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 1.000 1 2014 2014
dbSNP: rs1060501861
rs1060501861 		21 42486448 frameshift variant -/T delins 4.0E-06 2.8E-05
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: rs1064792947
rs1064792947 		21 42482620 splice donor variant GCTCCGCAACTTACCAT/- 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: rs138320978
rs138320978 		0.925 0.160 21 42493049 stop gained C/A;T snv 2.6E-04; 2.0E-05
CUI: C3809634
Disease: CILIARY DYSKINESIA, PRIMARY, 24
CILIARY DYSKINESIA, PRIMARY, 24 		0.700 0
dbSNP: rs144037391
rs144037391 		1.000 21 42486421 stop gained G/A;C snv 9.1E-05 3.4E-04
CUI: C3809634
Disease: CILIARY DYSKINESIA, PRIMARY, 24
CILIARY DYSKINESIA, PRIMARY, 24 		0.700 0
dbSNP: rs151107532
rs151107532 		0.925 0.160 21 42486463 splice acceptor variant T/G snv 3.7E-04 4.7E-04
CUI: C3809634
Disease: CILIARY DYSKINESIA, PRIMARY, 24
CILIARY DYSKINESIA, PRIMARY, 24 		0.700 0
dbSNP: rs1555875358
rs1555875358 		21 42477153 splice donor variant CACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGTCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACTC/- 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: rs200382776
rs200382776 		1.000 0.160 21 42477286 splice region variant C/T snv 2.6E-04 6.6E-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: rs556286752
rs556286752 		21 42477337 frameshift variant -/T delins 2.1E-05
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: rs587777058
rs587777058 		0.925 0.160 21 42485807 splice region variant G/T 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 0
dbSNP: rs587777058
rs587777058 		0.925 0.160 21 42485807 splice region variant G/T snv
CUI: C3809634
Disease: CILIARY DYSKINESIA, PRIMARY, 24
CILIARY DYSKINESIA, PRIMARY, 24 		0.700 0
dbSNP: rs587777059
rs587777059 		0.925 0.160 21 42485760 frameshift variant TACT/- delins 8.0E-06
CUI: C3809634
Disease: CILIARY DYSKINESIA, PRIMARY, 24
CILIARY DYSKINESIA, PRIMARY, 24 		0.700 0
dbSNP: rs587777635
rs587777635 		1.000 21 42486455 stop gained C/T snv
CUI: C3809634
Disease: CILIARY DYSKINESIA, PRIMARY, 24
CILIARY DYSKINESIA, PRIMARY, 24 		0.700 0
dbSNP: rs727503394
rs727503394 		21 42482647 stop gained A/C snv 4.0E-06
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: rs797045148
rs797045148 		1.000 0.160 21 42485804 splice region variant C/T 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 0