Disease: Retinitis Pigmentosa ×
Source: BEFREE ×
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: rs61751374
rs61751374 		0.776 0.160 1 94043413 missense variant G/A snv 1.7E-03 1.7E-03
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.710 1.000 1 2008 2019
dbSNP: rs62645944
rs62645944 		0.807 0.080 1 94098794 splice region variant C/A snv 8.8E-05 6.3E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.710 1.000 1 2004 2019
dbSNP: rs1801581
rs1801581 		0.925 0.080 1 94047009 missense variant C/A;T snv 2.8E-05; 3.0E-02
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2008 2008
dbSNP: rs3112831
rs3112831 		1.000 0.080 1 94078678 missense variant T/C;G snv 0.26 0.26
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2017 2017
dbSNP: rs61749414
rs61749414 		0.882 0.080 1 94062611 stop gained G/A;T snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2019 2019
dbSNP: rs794727903
rs794727903 		0.925 0.080 1 94080697 stop gained G/A snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2019 2019