Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894493
rs104894493
NR2E3
1.000 0.160 15 71811591 missense variant G/A snv 2.0E-04 3.1E-04
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome 		0.700 1.000 8 2000 2013