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: rs62638625
rs62638625
1.000 0.080 5 178983005 missense variant C/T snv 8.0E-05; 4.0E-06 3.6E-04
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 3 2005 2013