rs200382776, RSPH1

N. diseases: 2
Source: CLINVAR ×
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 1.000 0.160 21 42477286 splice region variant C/T snv 2.6E-04 6.6E-05 0.700 1.000 1 2013 2013
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
67 1.000 0.160 21 42477286 splice region variant C/T snv 2.6E-04 6.6E-05 0.700 0