Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
LEBER CONGENITAL AMAUROSIS 13
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
20 0.882 0.080 14 67729337 frameshift variant CCCTG/- delins 9.1E-05 0.700 1.000 5 2005 2015
Abnormality of the eye
CUI: C4316870
Disease: Abnormality of the eye
29 0.882 0.080 14 67729337 frameshift variant CCCTG/- delins 9.1E-05 0.700 1.000 1 2004 2004
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
227 0.882 0.080 14 67729337 frameshift variant CCCTG/- delins 9.1E-05 0.700 1.000 1 2004 2004
Leber Congenital Amaurosis
CUI: C0339527
Disease: Leber Congenital Amaurosis
109 0.882 0.080 14 67729337 frameshift variant CCCTG/- delins 9.1E-05 0.700 0
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.882 0.080 14 67729337 frameshift variant CCCTG/- delins 9.1E-05 0.700 0