RHO, rhodopsin, 6010

N. diseases: 178; N. variants: 71
Disease: Retinitis Pigmentosa 4 ×
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: rs104893782
rs104893782 		0.882 0.080 3 129532340 missense variant T/G snv
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 20 1990 2009
dbSNP: rs766161322
rs766161322 		0.925 0.080 3 129532379 missense variant T/G snv 2.0E-05
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 20 1990 2009
dbSNP: rs104893770
rs104893770 		1.000 0.080 3 129528866 missense variant T/C snv 2.4E-05 6.3E-05
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 20 1990 2009
dbSNP: rs1553781140
rs1553781140 		1.000 0.080 3 129530906 missense variant T/C snv
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 20 1990 2009
dbSNP: rs774336493
rs774336493 		0.925 0.080 3 129528864 missense variant T/C snv 4.0E-06 1.4E-05
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 20 1990 2009
dbSNP: rs104893771
rs104893771 		1.000 0.080 3 129528993 missense variant T/A snv
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 20 1990 2009
dbSNP: rs104893792
rs104893792 		1.000 0.080 3 129528884 missense variant G/C;T snv
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 20 1990 2009
dbSNP: rs104893773
rs104893773 		0.882 0.080 3 129529049 missense variant G/A;T snv 1.6E-05
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 20 1990 2009
dbSNP: rs104893774
rs104893774 		0.925 0.080 3 129530918 missense variant G/A;T snv 8.0E-06
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 20 1990 2009
dbSNP: rs104893779
rs104893779 		0.851 0.080 3 129532288 missense variant G/A;T snv 4.0E-06
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 20 1990 2009
dbSNP: rs1415160298
rs1415160298 		1.000 0.080 3 129529058 stop gained G/A;T snv 4.0E-06
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs759945007
rs759945007 		1.000 0.080 3 129529035 missense variant G/A;T snv 8.0E-06
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs104893772
rs104893772 		0.925 0.080 3 129528999 missense variant G/A;C snv
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 20 1990 2009
dbSNP: rs104893788
rs104893788 		0.925 0.080 3 129529074 missense variant G/A;C snv 4.0E-06
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 20 1990 2009
dbSNP: rs104893791
rs104893791 		0.851 0.080 3 129530962 missense variant G/A;C snv 4.8E-05; 1.6E-05
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 20 1990 2009
dbSNP: rs104893795
rs104893795 		1.000 0.080 3 129533704 missense variant G/A;C snv
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 20 1990 2009
dbSNP: rs200946638
rs200946638 		0.925 0.080 3 129528786 missense variant G/A;C snv 8.0E-05; 8.0E-06
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs775557680
rs775557680 		0.882 0.080 3 129532261 missense variant G/A;C snv 8.0E-06
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 0
dbSNP: rs104893780
rs104893780 		1.000 0.080 3 129532264 missense variant G/A snv
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 20 1990 2009
dbSNP: rs104893787
rs104893787 		0.882 0.080 3 129529062 missense variant G/A snv
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 20 1990 2009
dbSNP: rs1424131846
rs1424131846 		1.000 0.080 3 129532283 missense variant G/A snv 4.0E-06
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 20 1990 2009
dbSNP: rs527236100
rs527236100 		0.851 0.080 3 129532282 missense variant G/A snv
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs121918590
rs121918590 		1.000 0.080 3 129532625 inframe deletion CTG/- delins
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs104893769
rs104893769 		0.807 0.160 3 129528783 missense variant C/T snv 7.0E-06
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 20 1990 2009
dbSNP: rs104893775
rs104893775 		0.807 0.160 3 129530917 missense variant C/T snv
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 20 1990 2009