Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs61750200
rs61750200
ABCA4
0.790 0.080 1 94098928 missense variant G/A;T snv 1.1E-04; 8.0E-06
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
CONE-ROD DYSTROPHY 3 (disorder) 		0.800 1.000 3 1998 2001
dbSNP: rs61751374
rs61751374
ABCA4
0.776 0.160 1 94043413 missense variant G/A snv 1.7E-03 1.7E-03
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
CONE-ROD DYSTROPHY 3 (disorder) 		0.800 1.000 3 2000 2001
dbSNP: rs76157638
rs76157638
ABCA4
0.851 0.080 1 94051698 missense variant C/G;T snv 4.4E-03; 4.0E-06
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
CONE-ROD DYSTROPHY 3 (disorder) 		0.800 1.000 3 2000 2001
dbSNP: rs61750155
rs61750155
ABCA4
0.925 0.080 1 94021695 missense variant G/T snv 2.4E-05 2.8E-05
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
CONE-ROD DYSTROPHY 3 (disorder) 		0.700 1.000 3 2000 2001
dbSNP: rs61751264
rs61751264
ABCA4
0.925 0.080 1 94079341 missense variant G/A snv
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
CONE-ROD DYSTROPHY 3 (disorder) 		0.700 1.000 3 2000 2001
dbSNP: rs61751384
rs61751384
ABCA4
0.925 0.080 1 94000866 missense variant C/T snv 2.4E-05 4.9E-05
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
CONE-ROD DYSTROPHY 3 (disorder) 		0.700 1.000 3 2000 2001
dbSNP: rs61751392
rs61751392
ABCA4
0.827 0.080 1 94063250 missense variant A/G snv 1.5E-04 1.7E-04
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
CONE-ROD DYSTROPHY 3 (disorder) 		0.700 1.000 3 2000 2001
dbSNP: rs61751399
rs61751399
ABCA4
0.882 0.080 1 94041367 missense variant C/T snv 2.4E-05 2.1E-05
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
CONE-ROD DYSTROPHY 3 (disorder) 		0.700 1.000 3 2000 2001
dbSNP: rs61751402
rs61751402
ABCA4
0.882 0.080 1 94029515 missense variant C/T snv 6.3E-05 5.6E-05
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
CONE-ROD DYSTROPHY 3 (disorder) 		0.700 1.000 3 2000 2001
dbSNP: rs61751403
rs61751403
ABCA4
0.925 0.080 1 94021339 missense variant C/T snv 3.2E-05 2.1E-05
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
CONE-ROD DYSTROPHY 3 (disorder) 		0.700 1.000 3 2000 2001
dbSNP: rs61751404
rs61751404
ABCA4
0.882 0.080 1 94021340 missense variant G/A;C snv 3.2E-05; 4.0E-06
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
CONE-ROD DYSTROPHY 3 (disorder) 		0.700 1.000 3 2000 2001
dbSNP: rs61753039
rs61753039
ABCA4
1.000 0.080 1 94001961 missense variant A/C snv
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
CONE-ROD DYSTROPHY 3 (disorder) 		0.700 1.000 3 2000 2001
dbSNP: rs61753044
rs61753044
ABCA4
1.000 0.080 1 94000878 missense variant C/T snv
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
CONE-ROD DYSTROPHY 3 (disorder) 		0.700 1.000 3 2000 2001
dbSNP: rs1762111
rs1762111
ABCA4
0.851 0.080 1 94021934 missense variant A/G snv 1.2E-03 1.3E-03
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
CONE-ROD DYSTROPHY 3 (disorder) 		0.700 0
dbSNP: rs62654395
rs62654395
ABCA4
0.925 0.080 1 94111546 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
CONE-ROD DYSTROPHY 3 (disorder) 		0.700 0