rs375053470, DNAH5

N. diseases: 2
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.
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 5 13794031 stop gained G/A snv 1.6E-05; 4.0E-06 1.4E-05 0.700 1.000 6 2002 2013
Ciliary Motility Disorders
CUI: C0008780
Disease: Ciliary Motility Disorders
402 5 13794031 stop gained G/A snv 1.6E-05; 4.0E-06 1.4E-05 0.700 1.000 1 2002 2002