rs398124401, SRD5A3

N. diseases: 26
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.
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
227 0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 0.010 1.000 1 2017 2017