rs1554269295, DNAH11

N. diseases: 1
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 7 21687485 frameshift variant TGAAAATGATTCATGATGCCATCAGAAACAGGAAGAAG/- delins 0.700 0