RPGRIP1, RPGR interacting protein 1, 57096

N. diseases: 121; N. variants: 36
Disease: LEBER CONGENITAL AMAUROSIS 6 (disorder) ×
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: rs61751268
rs61751268 		1.000 0.040 14 21325253 missense variant G/A snv
CUI: C1854260
Disease: LEBER CONGENITAL AMAUROSIS 6 (disorder)
LEBER CONGENITAL AMAUROSIS 6 (disorder) 		Eye Diseases 0.700 1.000 5 2001 2014
dbSNP: rs374188857
rs374188857 		0.925 0.080 14 21311822 splice acceptor variant A/G snv 1.3E-05 7.0E-06
CUI: C1854260
Disease: LEBER CONGENITAL AMAUROSIS 6 (disorder)
LEBER CONGENITAL AMAUROSIS 6 (disorder) 		Eye Diseases 0.700 1.000 2 2001 2013
dbSNP: rs75459701
rs75459701 		0.925 0.080 14 21325318 stop gained C/T snv 2.5E-05 3.5E-05
CUI: C1854260
Disease: LEBER CONGENITAL AMAUROSIS 6 (disorder)
LEBER CONGENITAL AMAUROSIS 6 (disorder) 		Eye Diseases 0.700 1.000 2 2010 2015
dbSNP: rs1566674809
rs1566674809 		1.000 0.040 14 21307704 splice acceptor variant AATAATTTAGCGCCTTTCTCTGCAGAGCTTCCATTAAAGAGAAGGTAGAGCTGATTCGACTTAAGAAG/- delins
CUI: C1854260
Disease: LEBER CONGENITAL AMAUROSIS 6 (disorder)
LEBER CONGENITAL AMAUROSIS 6 (disorder) 		Eye Diseases 0.700 1.000 1 2018 2018
dbSNP: rs759940113
rs759940113 		0.882 0.080 14 21325903 stop gained C/A;T snv 8.0E-06
CUI: C1854260
Disease: LEBER CONGENITAL AMAUROSIS 6 (disorder)
LEBER CONGENITAL AMAUROSIS 6 (disorder) 		Eye Diseases 0.700 1.000 1 2018 2018
dbSNP: rs137853124
rs137853124 		0.925 0.040 14 21294785 stop gained G/A snv
CUI: C1854260
Disease: LEBER CONGENITAL AMAUROSIS 6 (disorder)
LEBER CONGENITAL AMAUROSIS 6 (disorder) 		Eye Diseases 0.700 0
dbSNP: rs1566341956
rs1566341956 		0.925 0.080 14 21324872 stop gained C/T snv
CUI: C1854260
Disease: LEBER CONGENITAL AMAUROSIS 6 (disorder)
LEBER CONGENITAL AMAUROSIS 6 (disorder) 		Eye Diseases 0.700 0
dbSNP: rs535922252
rs535922252 		1.000 0.040 14 21324747 missense variant A/G;T snv 1.2E-05; 4.0E-06
CUI: C1854260
Disease: LEBER CONGENITAL AMAUROSIS 6 (disorder)
LEBER CONGENITAL AMAUROSIS 6 (disorder) 		Eye Diseases 0.700 0
dbSNP: rs554396590
rs554396590 		1.000 0.040 14 21303542 stop gained C/T snv 4.0E-06
CUI: C1854260
Disease: LEBER CONGENITAL AMAUROSIS 6 (disorder)
LEBER CONGENITAL AMAUROSIS 6 (disorder) 		Eye Diseases 0.700 0
dbSNP: rs587783012
rs587783012 		1.000 0.040 14 21345140 frameshift variant CGAAGGC/- delins
CUI: C1854260
Disease: LEBER CONGENITAL AMAUROSIS 6 (disorder)
LEBER CONGENITAL AMAUROSIS 6 (disorder) 		Eye Diseases 0.700 0
dbSNP: rs587783018
rs587783018 		1.000 0.040 14 21307762 stop gained C/A;T snv
CUI: C1854260
Disease: LEBER CONGENITAL AMAUROSIS 6 (disorder)
LEBER CONGENITAL AMAUROSIS 6 (disorder) 		Eye Diseases 0.700 0
dbSNP: rs587783019
rs587783019 		1.000 0.040 14 21325372 stop gained C/T snv
CUI: C1854260
Disease: LEBER CONGENITAL AMAUROSIS 6 (disorder)
LEBER CONGENITAL AMAUROSIS 6 (disorder) 		Eye Diseases 0.700 0
dbSNP: rs61751266
rs61751266 		0.925 0.040 14 21312458 frameshift variant A/- delins
CUI: C1854260
Disease: LEBER CONGENITAL AMAUROSIS 6 (disorder)
LEBER CONGENITAL AMAUROSIS 6 (disorder) 		Eye Diseases 0.700 0
dbSNP: rs752263228
rs752263228 		1.000 0.040 14 21303414 frameshift variant C/- delins 1.2E-05 7.0E-06
CUI: C1854260
Disease: LEBER CONGENITAL AMAUROSIS 6 (disorder)
LEBER CONGENITAL AMAUROSIS 6 (disorder) 		Eye Diseases 0.700 0
dbSNP: rs771116776
rs771116776 		0.925 0.080 14 21345198 splice donor variant G/A;T snv 8.1E-06
CUI: C1854260
Disease: LEBER CONGENITAL AMAUROSIS 6 (disorder)
LEBER CONGENITAL AMAUROSIS 6 (disorder) 		Eye Diseases 0.700 0
dbSNP: rs776289402
rs776289402 		1.000 0.040 14 21327626 frameshift variant -/T delins 3.6E-05 1.4E-05
CUI: C1854260
Disease: LEBER CONGENITAL AMAUROSIS 6 (disorder)
LEBER CONGENITAL AMAUROSIS 6 (disorder) 		Eye Diseases 0.700 0
dbSNP: rs776698746
rs776698746 		1.000 0.040 14 21343163 frameshift variant -/CT ins 4.0E-06
CUI: C1854260
Disease: LEBER CONGENITAL AMAUROSIS 6 (disorder)
LEBER CONGENITAL AMAUROSIS 6 (disorder) 		Eye Diseases 0.700 0
dbSNP: rs886039911
rs886039911 		0.882 0.080 14 21307830 splice donor variant AGAGGTGAGTTGCCATCATCA/- delins
CUI: C1854260
Disease: LEBER CONGENITAL AMAUROSIS 6 (disorder)
LEBER CONGENITAL AMAUROSIS 6 (disorder) 		Eye Diseases 0.700 0