Source: ALL
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: rs121908280
rs121908280 		1.000 0.040 19 3770916 missense variant C/A;G;T snv 6.2E-06; 1.2E-04
CUI: C3151060
Disease: Macular Degeneration, Age-Related, 6
Macular Degeneration, Age-Related, 6 		Eye Diseases 0.800 1.000 1 2004 2004
dbSNP: rs121908281
rs121908281 		1.000 0.080 19 3770767 missense variant C/G snv
CUI: C1835865
Disease: Cone-Rod Dystrophy 11
Cone-Rod Dystrophy 11 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 1 2004 2004
dbSNP: rs549932754
rs549932754 		1.000 0.080 19 3770753 inframe insertion -/GGGCCC delins 7.3E-04; 1.6E-05 1.0E-04
CUI: C1835865
Disease: Cone-Rod Dystrophy 11
Cone-Rod Dystrophy 11 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs886041039
rs886041039 		1.000 0.080 19 3770701 frameshift variant GCCATCTGCGA/- delins
CUI: C1835865
Disease: Cone-Rod Dystrophy 11
Cone-Rod Dystrophy 11 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0