Disease: Retinitis Pigmentosa 10 ×
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: C1867299
Disease: Retinitis Pigmentosa 10
Retinitis Pigmentosa 10 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.710 1.000 1 2006 2006
dbSNP: rs121912551
rs121912551 		1.000 0.080 7 128398431 missense variant C/T snv 4.8E-05 6.3E-05
CUI: C1867299
Disease: Retinitis Pigmentosa 10
Retinitis Pigmentosa 10 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs121912552
rs121912552 		0.882 0.080 7 128398562 missense variant C/G snv
CUI: C1867299
Disease: Retinitis Pigmentosa 10
Retinitis Pigmentosa 10 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs886037911
rs886037911 		1.000 0.080 7 128398504 missense variant C/G snv
CUI: C1867299
Disease: Retinitis Pigmentosa 10
Retinitis Pigmentosa 10 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1042253
rs1042253 		0.851 0.120 7 128398543 synonymous variant G/A snv 4.0E-06
CUI: C1867299
Disease: Retinitis Pigmentosa 10
Retinitis Pigmentosa 10 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2006 2006
dbSNP: rs200729507
rs200729507 		0.851 0.120 7 128396990 missense variant G/A;C;T snv 7.6E-05; 4.0E-06
CUI: C1867299
Disease: Retinitis Pigmentosa 10
Retinitis Pigmentosa 10 		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: C1867299
Disease: Retinitis Pigmentosa 10
Retinitis Pigmentosa 10 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2006 2006