RDH12, retinol dehydrogenase 12, 145226

N. diseases: 56; N. variants: 24
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: rs386834261
rs386834261 		0.882 0.080 14 67729337 frameshift variant CCCTG/- delins 9.1E-05
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
LEBER CONGENITAL AMAUROSIS 13 		Eye Diseases 0.700 1.000 5 2005 2015
dbSNP: rs104894474
rs104894474 		0.882 0.080 14 67726086 stop gained G/T snv
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
LEBER CONGENITAL AMAUROSIS 13 		Eye Diseases 0.700 1.000 3 2004 2016
dbSNP: rs104894472
rs104894472 		1.000 0.040 14 67727055 missense variant T/C snv
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
LEBER CONGENITAL AMAUROSIS 13 		Eye Diseases 0.800 1.000 2 2004 2004
dbSNP: rs104894473
rs104894473 		1.000 0.040 14 67724556 missense variant T/A;C snv
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
LEBER CONGENITAL AMAUROSIS 13 		Eye Diseases 0.800 1.000 2 2004 2004
dbSNP: rs104894476
rs104894476 		1.000 0.040 14 67729220 missense variant C/G snv
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
LEBER CONGENITAL AMAUROSIS 13 		Eye Diseases 0.800 1.000 2 2004 2004
dbSNP: rs28940313
rs28940313 		1.000 0.040 14 67729209 splice donor variant A/G snv 7.0E-06
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
LEBER CONGENITAL AMAUROSIS 13 		Eye Diseases 0.800 1.000 2 2004 2004
dbSNP: rs104894470
rs104894470 		0.925 0.040 14 67727097 stop gained C/T snv
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		Eye Diseases 0.010 1.000 1 2007 2007
dbSNP: rs104894474
rs104894474 		0.882 0.080 14 67726086 stop gained G/T snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2019 2019
dbSNP: rs104894474
rs104894474 		0.882 0.080 14 67726086 stop gained G/T snv
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		Eye Diseases 0.010 1.000 1 2007 2007
dbSNP: rs386834261
rs386834261 		0.882 0.080 14 67729337 frameshift variant CCCTG/- delins 9.1E-05
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		0.700 1.000 1 2004 2004
dbSNP: rs386834261
rs386834261 		0.882 0.080 14 67729337 frameshift variant CCCTG/- delins 9.1E-05
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 1.000 1 2004 2004
dbSNP: rs794729650
rs794729650 		1.000 0.040 14 67722699 frameshift variant CATC/- delins
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
LEBER CONGENITAL AMAUROSIS 13 		Eye Diseases 0.700 1.000 1 2007 2007
dbSNP: rs104894470
rs104894470 		0.925 0.040 14 67727097 stop gained C/T snv
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
LEBER CONGENITAL AMAUROSIS 13 		Eye Diseases 0.700 0
dbSNP: rs386834261
rs386834261 		0.882 0.080 14 67729337 frameshift variant CCCTG/- delins 9.1E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs386834261
rs386834261 		0.882 0.080 14 67729337 frameshift variant CCCTG/- delins 9.1E-05
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		Eye Diseases 0.700 0
dbSNP: rs387906272
rs387906272 		0.925 0.080 14 67727191 splice donor variant G/A snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs387906272
rs387906272 		0.925 0.080 14 67727191 splice donor variant G/A snv
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
LEBER CONGENITAL AMAUROSIS 13 		Eye Diseases 0.700 0
dbSNP: rs527236099
rs527236099 		1.000 0.080 14 67729308 frameshift variant G/- delins
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs878853341
rs878853341 		14 67727179 splice donor variant GAGGCTCCAAGGTAAGTCTGGAGAAAGAGGA/- delins
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 0
dbSNP: rs368489658
rs368489658 		1.000 0.040 14 67725137 missense variant G/A;C;T snv 4.0E-06
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
LEBER CONGENITAL AMAUROSIS 13 		Eye Diseases 0.700 1.000 3 2009 2015
dbSNP: rs17852293
rs17852293 		1.000 0.040 14 67727014 missense variant G/A;C snv 0.13; 4.0E-06
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		Eye Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1239043055
rs1239043055 		0.925 0.080 14 67729248 missense variant G/A;T snv 8.1E-06; 4.0E-06
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
LEBER CONGENITAL AMAUROSIS 13 		Eye Diseases 0.700 1.000 2 2005 2014
dbSNP: rs1239043055
rs1239043055 		0.925 0.080 14 67729248 missense variant G/A;T snv 8.1E-06; 4.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs28940314
rs28940314 		0.925 0.080 14 67724550 missense variant C/A;T snv 8.0E-06; 1.6E-05
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
LEBER CONGENITAL AMAUROSIS 13 		Eye Diseases 0.800 1.000 2 2004 2004
dbSNP: rs28940314
rs28940314 		0.925 0.080 14 67724550 missense variant C/A;T snv 8.0E-06; 1.6E-05
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0