Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs61755783
rs61755783
PRPH2
0.763 0.080 6 42721911 missense variant G/A snv 1.4E-05
CUI: C1536451
Disease: Central areolar choroidal sclerosis
Central areolar choroidal sclerosis 		0.030 1.000 3 2002 2018
dbSNP: rs121918567
rs121918567
PRPH2
0.807 0.080 6 42704609 missense variant C/A;T snv 4.0E-06
CUI: C1536451
Disease: Central areolar choroidal sclerosis
Central areolar choroidal sclerosis 		0.020 1.000 2 2006 2011
dbSNP: rs139185976
rs139185976
PRPH2
0.882 0.080 6 42704570 missense variant C/T snv 4.8E-05 9.8E-05
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		0.700 1.000 2 1997 2019
dbSNP: rs61755800
rs61755800
PRPH2
0.882 0.080 6 42704559 missense variant T/C;G snv 8.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.710 1.000 2 1993 2008
dbSNP: rs61755805
rs61755805
PRPH2
0.882 0.080 6 42704547 missense variant G/A snv
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		0.020 1.000 2 1994 1995
dbSNP: rs121918564
rs121918564
PRPH2
1.000 0.080 6 42704419 stop gained G/T snv
CUI: C1842914
Disease: Adult-Onset Vitelliform Macular Dystrophy
Adult-Onset Vitelliform Macular Dystrophy 		0.710 1.000 1 1997 1997
dbSNP: rs121918567
rs121918567
PRPH2
0.807 0.080 6 42704609 missense variant C/A;T snv 4.0E-06
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		0.010 1.000 1 2015 2015
dbSNP: rs121918567
rs121918567
PRPH2
0.807 0.080 6 42704609 missense variant C/A;T snv 4.0E-06
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy 		0.010 1.000 1 2009 2009
dbSNP: rs139185976
rs139185976
PRPH2
0.882 0.080 6 42704570 missense variant C/T snv 4.8E-05 9.8E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.010 1.000 1 1998 1998
dbSNP: rs61755781
rs61755781
PRPH2
0.851 0.080 6 42721913 missense variant T/C snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.010 1.000 1 2017 2017
dbSNP: rs61755781
rs61755781
PRPH2
0.851 0.080 6 42721913 missense variant T/C snv
CUI: C1842914
Disease: Adult-Onset Vitelliform Macular Dystrophy
Adult-Onset Vitelliform Macular Dystrophy 		0.800 1.000 1 2012 2012
dbSNP: rs61755783
rs61755783
PRPH2
0.763 0.080 6 42721911 missense variant G/A snv 1.4E-05
CUI: C4048273
Disease: Chorioretinal atrophy
Chorioretinal atrophy 		0.010 1.000 1 1996 1996
dbSNP: rs61755783
rs61755783
PRPH2
0.763 0.080 6 42721911 missense variant G/A snv 1.4E-05
CUI: C4520679
Disease: Abnormal macular morphology
Abnormal macular morphology 		0.010 1.000 1 1996 1996
dbSNP: rs61755783
rs61755783
PRPH2
0.763 0.080 6 42721911 missense variant G/A snv 1.4E-05
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy 		0.010 1.000 1 2009 2009
dbSNP: rs61755783
rs61755783
PRPH2
0.763 0.080 6 42721911 missense variant G/A snv 1.4E-05
CUI: C0271092
Disease: Progressive cone dystrophy (without rod involvement)
Progressive cone dystrophy (without rod involvement) 		0.700 1.000 1 2019 2019
dbSNP: rs61755783
rs61755783
PRPH2
0.763 0.080 6 42721911 missense variant G/A snv 1.4E-05
CUI: C0339513
Disease: Dominant drusen
Dominant drusen 		0.010 1.000 1 2002 2002
dbSNP: rs61755783
rs61755783
PRPH2
0.763 0.080 6 42721911 missense variant G/A snv 1.4E-05
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.010 1.000 1 2009 2009
dbSNP: rs61755789
rs61755789
PRPH2
0.925 0.080 6 42721835 missense variant C/T snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.010 1.000 1 1994 1994
dbSNP: rs61755793
rs61755793
PRPH2
0.807 0.080 6 42721820 missense variant C/T snv 4.0E-06
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy 		0.010 1.000 1 2009 2009
dbSNP: rs61755793
rs61755793
PRPH2
0.807 0.080 6 42721820 missense variant C/T snv 4.0E-06
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		0.700 1.000 1 2019 2019
dbSNP: rs61755793
rs61755793
PRPH2
0.807 0.080 6 42721820 missense variant C/T snv 4.0E-06
CUI: C1536451
Disease: Central areolar choroidal sclerosis
Central areolar choroidal sclerosis 		0.010 1.000 1 2009 2009
dbSNP: rs61755793
rs61755793
PRPH2
0.807 0.080 6 42721820 missense variant C/T snv 4.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 2019 2019
dbSNP: rs61755793
rs61755793
PRPH2
0.807 0.080 6 42721820 missense variant C/T snv 4.0E-06
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.010 1.000 1 2009 2009
dbSNP: rs61755797
rs61755797
PRPH2
0.882 0.080 6 42704565 missense variant G/A;C snv 4.0E-06
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		0.700 1.000 1 2019 2019
dbSNP: rs61755797
rs61755797
PRPH2
0.882 0.080 6 42704565 missense variant G/A;C snv 4.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.010 1.000 1 1994 1994