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: rs201893545
rs201893545 		0.925 0.080 3 101304277 missense variant A/G snv 6.4E-05 4.2E-05
CUI: C4015343
Disease: MACULAR DYSTROPHY, VITELLIFORM, 5
MACULAR DYSTROPHY, VITELLIFORM, 5 		0.800 1.000 3 2010 2017
dbSNP: rs713993049
rs713993049 		0.925 0.080 3 101232784 missense variant C/A snv 8.0E-06
CUI: C4015343
Disease: MACULAR DYSTROPHY, VITELLIFORM, 5
MACULAR DYSTROPHY, VITELLIFORM, 5 		0.800 0
dbSNP: rs267606875
rs267606875 		0.925 0.040 3 101242820 stop gained G/A snv 1.2E-05 2.1E-05
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		Eye Diseases 0.700 1.000 1 2019 2019
dbSNP: rs503734
rs503734 		1.000 0.040 3 101304904 intron variant A/G snv 0.40
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs503734
rs503734 		1.000 0.040 3 101304904 intron variant A/G snv 0.40
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs758291149
rs758291149 		3 101244651 stop gained A/G;T snv 2.4E-05 2.1E-05
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		0.700 1.000 1 2010 2010
dbSNP: rs758291149
rs758291149 		3 101244651 stop gained A/G;T snv 2.4E-05 2.1E-05
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 1.000 1 2010 2010
dbSNP: rs1553681348
rs1553681348 		1.000 0.080 3 101243905 stop gained C/T snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1553681433
rs1553681433 		1.000 3 101244505 frameshift variant A/- del
CUI: C3150819
Disease: RETINITIS PIGMENTOSA 56
RETINITIS PIGMENTOSA 56 		0.700 0
dbSNP: rs1553687058
rs1553687058 		1.000 0.080 3 101319800 stop gained C/A snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1553687118
rs1553687118 		1.000 3 101320286 splice donor variant A/T snv
CUI: C3150819
Disease: RETINITIS PIGMENTOSA 56
RETINITIS PIGMENTOSA 56 		0.700 0
dbSNP: rs1559642470
rs1559642470 		1.000 3 101242894 missense variant A/T snv
CUI: C4015343
Disease: MACULAR DYSTROPHY, VITELLIFORM, 5
MACULAR DYSTROPHY, VITELLIFORM, 5 		0.700 0
dbSNP: rs199867882
rs199867882 		1.000 0.080 3 101231117 stop gained G/A snv 3.6E-05 1.4E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs201893545
rs201893545 		0.925 0.080 3 101304277 missense variant A/G snv 6.4E-05 4.2E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs267606874
rs267606874 		0.925 0.080 3 101275694 stop gained G/C snv
CUI: C3150819
Disease: RETINITIS PIGMENTOSA 56
RETINITIS PIGMENTOSA 56 		0.700 0
dbSNP: rs267606874
rs267606874 		0.925 0.080 3 101275694 stop gained G/C snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs267606875
rs267606875 		0.925 0.040 3 101242820 stop gained G/A snv 1.2E-05 2.1E-05
CUI: C3150819
Disease: RETINITIS PIGMENTOSA 56
RETINITIS PIGMENTOSA 56 		0.700 0
dbSNP: rs267606876
rs267606876 		1.000 3 101243615 stop gained G/A snv 3.2E-05 1.4E-05
CUI: C3150819
Disease: RETINITIS PIGMENTOSA 56
RETINITIS PIGMENTOSA 56 		0.700 0
dbSNP: rs754995805
rs754995805 		1.000 0.080 3 101232983 splice region variant -/TTCATCACCTAAAA delins 1.6E-05 4.2E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs763295314
rs763295314 		1.000 3 101291499 stop gained A/C snv 7.0E-06
CUI: C4015343
Disease: MACULAR DYSTROPHY, VITELLIFORM, 5
MACULAR DYSTROPHY, VITELLIFORM, 5 		0.700 0
dbSNP: rs768660614
rs768660614 		3 101320304 frameshift variant -/T delins 4.0E-06
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 0
dbSNP: rs770339774
rs770339774 		1.000 0.080 3 101242782 frameshift variant G/- del
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs786205564
rs786205564 		1.000 0.080 3 101244057 stop gained C/T snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs878853357
rs878853357 		3 101228876 stop gained C/A snv 1.6E-05 1.4E-05
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 0
dbSNP: rs878853358
rs878853358 		3 101243918 frameshift variant AC/- delins
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 0