rs869320683, RSPH4A

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
67 0.925 0.160 6 116623002 splice region variant AAGT/- delins 2.7E-04 0.700 1.000 1 2013 2013
Ciliary Motility Disorders
CUI: C0008780
Disease: Ciliary Motility Disorders
402 0.925 0.160 6 116623002 splice region variant AAGT/- delins 2.7E-04 0.700 1.000 1 2013 2013
CILIARY DYSKINESIA, PRIMARY, 11
CUI: C2675229
Disease: CILIARY DYSKINESIA, PRIMARY, 11
8 0.925 0.160 6 116623002 splice region variant AAGT/- delins 2.7E-04 0.700 0