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: rs267606691
rs267606691 		0.925 0.080 2 29073706 stop gained G/A;C;T snv 8.0E-06; 4.8E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.710 1.000 1 2010 2010
dbSNP: rs140776870
rs140776870 		1.000 2 29072418 missense variant A/T snv 3.3E-03 1.4E-02
CUI: C3150691
Disease: RETINITIS PIGMENTOSA 54
RETINITIS PIGMENTOSA 54 		0.700 1.000 3 2010 2011
dbSNP: rs200758183
rs200758183 		1.000 2 29072427 missense variant A/G snv 2.9E-04 1.1E-03
CUI: C3150691
Disease: RETINITIS PIGMENTOSA 54
RETINITIS PIGMENTOSA 54 		0.700 1.000 3 2010 2011
dbSNP: rs201284350
rs201284350 		1.000 2 29073148 missense variant C/T snv 3.2E-05 6.3E-05
CUI: C3150691
Disease: RETINITIS PIGMENTOSA 54
RETINITIS PIGMENTOSA 54 		0.700 1.000 3 2010 2011
dbSNP: rs367658438
rs367658438 		1.000 0.080 2 29071260 stop gained C/G;T snv 2.0E-05; 4.8E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2011 2011
dbSNP: rs750987123
rs750987123 		1.000 0.080 2 29073504 stop gained C/T snv 4.0E-06
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 1.000 1 2010 2010
dbSNP: rs863223344
rs863223344 		1.000 0.080 2 29073550 stop gained T/A snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2015 2015
dbSNP: rs1553354826
rs1553354826 		1.000 2 29072716 frameshift variant -/T delins
CUI: C3150691
Disease: RETINITIS PIGMENTOSA 54
RETINITIS PIGMENTOSA 54 		0.700 0
dbSNP: rs267606690
rs267606690 		0.925 0.080 2 29073661 missense variant T/A;C snv 4.0E-06; 4.0E-06
CUI: C3150691
Disease: RETINITIS PIGMENTOSA 54
RETINITIS PIGMENTOSA 54 		0.700 0
dbSNP: rs267606691
rs267606691 		0.925 0.080 2 29073706 stop gained G/A;C;T snv 8.0E-06; 4.8E-05
CUI: C3150691
Disease: RETINITIS PIGMENTOSA 54
RETINITIS PIGMENTOSA 54 		0.700 0
dbSNP: rs527236055
rs527236055 		1.000 0.080 2 29072136 frameshift variant C/- delins
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs527236056
rs527236056 		1.000 0.080 2 29071273 frameshift variant -/G delins
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs777103184
rs777103184 		0.827 0.040 2 29073071 stop gained C/T snv 8.0E-06
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs777103184
rs777103184 		0.827 0.040 2 29073071 stop gained C/T snv 8.0E-06
CUI: C3150691
Disease: RETINITIS PIGMENTOSA 54
RETINITIS PIGMENTOSA 54 		0.700 0
dbSNP: rs777103184
rs777103184 		0.827 0.040 2 29073071 stop gained C/T snv 8.0E-06
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		0.700 0
dbSNP: rs777103184
rs777103184 		0.827 0.040 2 29073071 stop gained C/T snv 8.0E-06
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		Eye Diseases 0.700 0
dbSNP: rs777103184
rs777103184 		0.827 0.040 2 29073071 stop gained C/T snv 8.0E-06
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		Eye Diseases 0.700 0
dbSNP: rs777103184
rs777103184 		0.827 0.040 2 29073071 stop gained C/T snv 8.0E-06
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		0.700 0
dbSNP: rs779886453
rs779886453 		1.000 2 29073315 frameshift variant T/- delins 2.1E-05
CUI: C3150691
Disease: RETINITIS PIGMENTOSA 54
RETINITIS PIGMENTOSA 54 		0.700 0
dbSNP: rs794728002
rs794728002 		0.925 0.080 2 29071494 frameshift variant AGGGCTGGCTTCC/- delins
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs794728002
rs794728002 		0.925 0.080 2 29071494 frameshift variant AGGGCTGGCTTCC/- delins
CUI: C3150691
Disease: RETINITIS PIGMENTOSA 54
RETINITIS PIGMENTOSA 54 		0.700 0
dbSNP: rs267606690
rs267606690 		0.925 0.080 2 29073661 missense variant T/A;C snv 4.0E-06; 4.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2010 2010
dbSNP: rs750987123
rs750987123 		1.000 0.080 2 29073504 stop gained C/T snv 4.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2010 2010