Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1160535157
rs1160535157
X 120449056 stop gained G/C snv
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
Eye Diseases 0.010 1.000 1 2007 2007