rs1553268563, USH2A

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 1 215845823 coding sequence variant C/- delins 0.700 1.000 15 2000 2015
Overgrowth
CUI: C1849265
Disease: Overgrowth
93 1 215845823 coding sequence variant C/- delins 0.700 1.000 15 2000 2015