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: rs121918302
rs121918302
1.000 0.080 6 72251007 missense variant G/A;T snv 3.8E-05; 5.4E-06
CUI: C1863634
Disease: Cone-Rod Dystrophy 7
Cone-Rod Dystrophy 7
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.810 1.000 2 2003 2017
dbSNP: rs759999855
rs759999855
0.851 0.080 6 72392784 missense variant G/A snv 4.0E-06
CUI: C1863634
Disease: Cone-Rod Dystrophy 7
Cone-Rod Dystrophy 7
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2005 2005