Disease: Autosomal dominant retinitis pigmentosa ×
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: rs121912550
rs121912550 		0.827 0.120 7 128398557 missense variant C/T snv 4.0E-06
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.040 1.000 4 2005 2006
dbSNP: rs1042253
rs1042253 		0.851 0.120 7 128398543 synonymous variant G/A snv 4.0E-06
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1186710140
rs1186710140 		1.000 0.080 7 128398499 missense variant A/G snv
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2015 2015
dbSNP: rs121912552
rs121912552 		0.882 0.080 7 128398562 missense variant C/G snv
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2005 2005
dbSNP: rs1287231851
rs1287231851 		1.000 0.080 7 128400887 missense variant A/G snv 4.0E-06
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1486286708
rs1486286708 		1.000 0.080 7 128398508 missense variant T/C snv 7.0E-06
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2005 2005
dbSNP: rs200729507
rs200729507 		0.851 0.120 7 128396990 missense variant G/A;C;T snv 7.6E-05; 4.0E-06
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2006 2006
dbSNP: rs373276383
rs373276383 		1.000 0.080 7 128396940 missense variant C/A;G snv 1.2E-05; 4.0E-06
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2015 2015
dbSNP: rs745455593
rs745455593 		0.925 0.080 7 128400412 missense variant C/T snv 8.0E-06 2.8E-05
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2006 2006
dbSNP: rs759995866
rs759995866 		0.851 0.120 7 128398478 missense variant G/A snv 4.0E-06
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2006 2006
dbSNP: rs761020434
rs761020434 		1.000 0.080 7 128398475 missense variant C/A;T snv 4.0E-06; 1.2E-05
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2015 2015