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: rs104893778
rs104893778 		0.925 0.080 3 129533701 stop gained C/T snv
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs104893797
rs104893797 		0.882 0.080 3 129528800 missense variant C/G 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: 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: rs1553781176
rs1553781176 		0.925 0.080 3 129531023 missense variant C/G snv
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1560046837
rs1560046837 		1.000 0.080 3 129532258 missense variant C/A snv
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs200248198
rs200248198 		0.925 0.080 3 129530922 stop gained C/A;T snv 6.8E-05
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
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: rs29001566
rs29001566 		0.807 0.080 3 129533711 missense variant C/A;G;T snv
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
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: 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: 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: rs104893768
rs104893768 		0.807 0.080 3 129528801 missense variant C/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: 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: 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: 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: 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: 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: 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
dbSNP: rs104893776
rs104893776 		0.925 0.080 3 129532253 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: rs104893777
rs104893777 		1.000 0.080 3 129532289 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: 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: 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: rs104893781
rs104893781 		0.882 0.080 3 129532636 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