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: rs200691042
rs200691042
0.851 0.080 2 61839695 stop gained T/A snv 2.8E-04 2.9E-04
Autosomal recessive retinitis pigmentosa
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.020 1.000 2 2015 2015