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: rs61755806
rs61755806
PRPH2
0.882 0.080 6 42704546 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs61755805
rs61755805
PRPH2
0.882 0.080 6 42704547 missense variant G/A snv
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		0.700 1.000 11 1991 2016
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: rs61755805
rs61755805
PRPH2
0.882 0.080 6 42704547 missense variant G/A snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.010 1.000 1 1997 1997
dbSNP: rs61755804
rs61755804
PRPH2
0.925 0.080 6 42704552 missense variant C/G;T snv
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		0.700 1.000 11 1991 2016
dbSNP: rs61755804
rs61755804
PRPH2
0.925 0.080 6 42704552 missense variant C/G;T snv
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		0.010 1.000 1 1993 1993
dbSNP: rs61755802
rs61755802
PRPH2
1.000 0.040 6 42704556 missense variant A/G snv 4.0E-06
CUI: C4551999
Disease: MACULAR DYSTROPHY, PATTERNED, 1
MACULAR DYSTROPHY, PATTERNED, 1 		0.800 1.000 4 1993 2016
dbSNP: rs61755802
rs61755802
PRPH2
1.000 0.040 6 42704556 missense variant A/G snv 4.0E-06
CUI: C4013102
Disease: LEBER CONGENITAL AMAUROSIS 18
LEBER CONGENITAL AMAUROSIS 18 		0.700 0
dbSNP: rs1554269071
rs1554269071
PRPH2
1.000 0.080 6 42704557 missense variant G/C snv
CUI: C1842914
Disease: Adult-Onset Vitelliform Macular Dystrophy
Adult-Onset Vitelliform Macular Dystrophy 		0.700 0
dbSNP: rs61755801
rs61755801
PRPH2
1.000 0.080 6 42704558 missense variant C/G snv
CUI: C1842914
Disease: Adult-Onset Vitelliform Macular Dystrophy
Adult-Onset Vitelliform Macular Dystrophy 		0.700 1.000 5 1997 2016
dbSNP: rs61755800
rs61755800
PRPH2
0.882 0.080 6 42704559 missense variant T/C;G snv 8.0E-06
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		0.700 1.000 11 1991 2016
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: rs61755800
rs61755800
PRPH2
0.882 0.080 6 42704559 missense variant T/C;G snv 8.0E-06
CUI: C1842914
Disease: Adult-Onset Vitelliform Macular Dystrophy
Adult-Onset Vitelliform Macular Dystrophy 		0.010 1.000 1 2008 2008
dbSNP: rs61755799
rs61755799
PRPH2
0.882 0.160 6 42704560 missense variant G/T snv
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		0.010 1.000 1 1998 1998
dbSNP: rs61755799
rs61755799
PRPH2
0.882 0.160 6 42704560 missense variant G/T snv
CUI: C0042798
Disease: Low Vision
Low Vision 		0.010 1.000 1 1998 1998
dbSNP: rs61755799
rs61755799
PRPH2
0.882 0.160 6 42704560 missense variant G/T snv
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		0.700 0
dbSNP: rs61755798
rs61755798
PRPH2
0.827 0.080 6 42704564 missense variant G/A;C snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.010 1.000 1 2001 2001
dbSNP: rs61755798
rs61755798
PRPH2
0.827 0.080 6 42704564 missense variant G/A;C snv
CUI: C1320640
Disease: Peripheral retinal degeneration
Peripheral retinal degeneration 		0.010 1.000 1 1995 1995
dbSNP: rs61755798
rs61755798
PRPH2
0.827 0.080 6 42704564 missense variant G/A;C snv
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.010 1.000 1 2001 2001
dbSNP: rs61755798
rs61755798
PRPH2
0.827 0.080 6 42704564 missense variant G/A;C snv
CUI: C1842914
Disease: Adult-Onset Vitelliform Macular Dystrophy
Adult-Onset Vitelliform Macular Dystrophy 		0.710 1.000 1 2006 2006
dbSNP: rs61755798
rs61755798
PRPH2
0.827 0.080 6 42704564 missense variant G/A;C snv
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		0.700 0
dbSNP: rs61755798
rs61755798
PRPH2
0.827 0.080 6 42704564 missense variant G/A;C snv
CUI: C4551999
Disease: MACULAR DYSTROPHY, PATTERNED, 1
MACULAR DYSTROPHY, PATTERNED, 1 		0.700 0
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
dbSNP: rs61755797
rs61755797
PRPH2
0.882 0.080 6 42704565 missense variant G/A;C snv 4.0E-06
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		0.700 0