rs397515360, CNGB3

N. diseases: 8
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.
Achromatopsia 3
CUI: C1849792
Disease: Achromatopsia 3
106 0.807 0.160 8 86643781 frameshift variant G/- del 1.8E-03 0.700 1.000 6 2003 2017
Achromatopsia
CUI: C0152200
Disease: Achromatopsia
63 0.807 0.160 8 86643781 frameshift variant G/- del 1.8E-03 0.700 1.000 3 2000 2019
Leber Congenital Amaurosis
CUI: C0339527
Disease: Leber Congenital Amaurosis
109 0.807 0.160 8 86643781 frameshift variant G/- del 1.8E-03 0.700 1.000 2 2000 2019
Abnormality of the eye
CUI: C4316870
Disease: Abnormality of the eye
29 0.807 0.160 8 86643781 frameshift variant G/- del 1.8E-03 0.700 1.000 1 2000 2000
Cone-Rod Dystrophies
CUI: C4085590
Disease: Cone-Rod Dystrophies
53 0.807 0.160 8 86643781 frameshift variant G/- del 1.8E-03 0.700 1.000 1 2019 2019
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
227 0.807 0.160 8 86643781 frameshift variant G/- del 1.8E-03 0.700 1.000 1 2000 2000
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.807 0.160 8 86643781 frameshift variant G/- del 1.8E-03 0.700 1.000 1 2019 2019
STARGARDT DISEASE 1 (disorder)
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
317 0.807 0.160 8 86643781 frameshift variant G/- del 1.8E-03 0.700 0