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: rs104893786
rs104893786 		0.882 0.080 3 129528777 missense variant A/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: 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: 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: 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: rs104893793
rs104893793 		0.851 0.080 3 129531005 missense variant C/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: rs104893794
rs104893794 		0.925 0.080 3 129531025 missense variant C/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: 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: 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: 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: rs183318466
rs183318466 		1.000 0.080 3 129533696 missense variant C/A;T snv 4.0E-06; 2.4E-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: rs28933394
rs28933394 		0.882 0.080 3 129528906 missense variant C/G;T snv 9.1E-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: rs28933395
rs28933395 		0.925 0.080 3 129528891 missense variant C/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: rs28933993
rs28933993 		1.000 0.080 3 129532352 missense variant 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: rs29001637
rs29001637 		1.000 0.080 3 129533710 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
dbSNP: rs29001653
rs29001653 		0.925 0.080 3 129532722 missense variant A/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: 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