RPE65, retinoid isomerohydrolase RPE65, 6121

N. diseases: 431; N. variants: 63
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: rs61751282
rs61751282 		0.925 0.080 1 68446824 missense variant C/T snv 4.0E-05 7.0E-06
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder) 		Eye Diseases 0.800 1.000 18 1997 2017
dbSNP: rs61752908
rs61752908 		0.925 0.080 1 68438951 missense variant C/T snv 4.0E-06
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder) 		Eye Diseases 0.800 1.000 17 1997 2017
dbSNP: rs121917744
rs121917744 		0.851 0.080 1 68438228 missense variant G/A;T snv 1.6E-05
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder) 		Eye Diseases 0.800 1.000 15 1997 2017
dbSNP: rs61752896
rs61752896 		0.925 0.080 1 68439571 missense variant A/C;G snv 4.0E-06; 8.0E-06
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder) 		Eye Diseases 0.800 1.000 14 1997 2017
dbSNP: rs62636300
rs62636300 		0.925 0.120 1 68431328 missense variant T/C snv 4.0E-06
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder) 		Eye Diseases 0.800 1.000 14 1997 2017
dbSNP: rs62642584
rs62642584 		0.925 0.080 1 68444825 stop gained C/A;T snv 3.6E-05
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder) 		Eye Diseases 0.800 1.000 14 1997 2017
dbSNP: rs61752871
rs61752871 		0.827 0.080 1 68444858 missense variant G/A snv 5.6E-05 6.3E-05
CUI: C3151086
Disease: Retinitis Pigmentosa 20
Retinitis Pigmentosa 20 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 12 1998 2015
dbSNP: rs121917745
rs121917745 		0.851 0.080 1 68429835 missense variant G/A snv 8.0E-06 2.8E-05
CUI: C3151086
Disease: Retinitis Pigmentosa 20
Retinitis Pigmentosa 20 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 11 1998 2018
dbSNP: rs61752909
rs61752909 		0.925 0.080 1 68438293 missense variant A/G snv 1.4E-05
CUI: C3151086
Disease: Retinitis Pigmentosa 20
Retinitis Pigmentosa 20 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 6 1998 2013
dbSNP: rs62637004
rs62637004 		1.000 0.080 1 68431160 missense variant A/C snv 8.0E-06 2.1E-05
CUI: C3151086
Disease: Retinitis Pigmentosa 20
Retinitis Pigmentosa 20 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 6 1998 2013
dbSNP: rs62642584
rs62642584 		0.925 0.080 1 68444825 stop gained C/A;T snv 3.6E-05
CUI: C3151086
Disease: Retinitis Pigmentosa 20
Retinitis Pigmentosa 20 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 6 1998 2013
dbSNP: rs62653011
rs62653011 		0.882 0.080 1 68438213 missense variant A/G snv 6.8E-05 7.7E-05
CUI: C3151086
Disease: Retinitis Pigmentosa 20
Retinitis Pigmentosa 20 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 6 1998 2013
dbSNP: rs281865289
rs281865289 		1.000 0.040 1 68439081 missense variant C/A snv
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder) 		Eye Diseases 0.700 1.000 14 1997 2017
dbSNP: rs61751277
rs61751277 		1.000 0.040 1 68448653 missense variant A/G snv 2.8E-05 3.5E-05
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder) 		Eye Diseases 0.700 1.000 14 1997 2017
dbSNP: rs61751281
rs61751281 		0.925 0.080 1 68446837 missense variant C/T snv 2.4E-05 2.8E-05
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder) 		Eye Diseases 0.700 1.000 14 1997 2017
dbSNP: rs61752866
rs61752866 		1.000 0.040 1 68446753 missense variant G/A snv 4.0E-06
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder) 		Eye Diseases 0.700 1.000 14 1997 2017
dbSNP: rs61752873
rs61752873 		1.000 0.040 1 68444857 missense variant C/G;T snv
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder) 		Eye Diseases 0.700 1.000 14 1997 2017
dbSNP: rs61752880
rs61752880 		1.000 0.040 1 68444596 missense variant A/C snv
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder) 		Eye Diseases 0.700 1.000 14 1997 2017
dbSNP: rs61752882
rs61752882 		1.000 0.040 1 68444582 missense variant C/A snv
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder) 		Eye Diseases 0.700 1.000 14 1997 2017
dbSNP: rs61752883
rs61752883 		0.925 0.080 1 68440997 missense variant C/A snv 1.2E-05 7.0E-06
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder) 		Eye Diseases 0.700 1.000 14 1997 2017
dbSNP: rs61752884
rs61752884 		1.000 0.040 1 68440952 missense variant G/A;T snv 4.0E-06
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder) 		Eye Diseases 0.700 1.000 14 1997 2017
dbSNP: rs62635773
rs62635773 		1.000 0.040 1 68431536 missense variant G/C snv
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder) 		Eye Diseases 0.700 1.000 14 1997 2017
dbSNP: rs62636299
rs62636299 		0.882 0.040 1 68431371 missense variant C/G snv 4.0E-06 1.4E-05
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder) 		Eye Diseases 0.700 1.000 14 1997 2017
dbSNP: rs62636302
rs62636302 		1.000 0.040 1 68431316 missense variant T/C snv
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder) 		Eye Diseases 0.700 1.000 14 1997 2017
dbSNP: rs61752871
rs61752871 		0.827 0.080 1 68444858 missense variant G/A snv 5.6E-05 6.3E-05
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder) 		Eye Diseases 0.700 1.000 7 2000 2015