rs138320978, RSPH1

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 Motility Disorders
CUI: C0008780
Disease: Ciliary Motility Disorders
402 0.925 0.160 21 42493049 stop gained C/A;T snv 2.6E-04; 2.0E-05 0.700 1.000 4 2013 2015
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 21 42493049 stop gained C/A;T snv 2.6E-04; 2.0E-05 0.700 1.000 1 2014 2014
CILIARY DYSKINESIA, PRIMARY, 24
CUI: C3809634
Disease: CILIARY DYSKINESIA, PRIMARY, 24
7 0.925 0.160 21 42493049 stop gained C/A;T snv 2.6E-04; 2.0E-05 0.700 0