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: 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: rs61755815
rs61755815
PRPH2
0.851 0.080 6 42704463 missense variant T/G snv
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		0.010 1.000 1 1996 1996
dbSNP: rs62645926
rs62645926
PRPH2
0.851 0.080 6 42721784 missense variant T/G snv
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		0.010 1.000 1 1996 1996
dbSNP: rs62645932
rs62645932
PRPH2
0.882 0.080 6 42704594 missense variant A/T snv
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		0.010 1.000 1 1996 1996
dbSNP: rs61755815
rs61755815
PRPH2
0.851 0.080 6 42704463 missense variant T/G snv
CUI: C0730366
Disease: Rod dystrophy
Rod dystrophy 		0.010 1.000 1 1996 1996
dbSNP: rs62645926
rs62645926
PRPH2
0.851 0.080 6 42721784 missense variant T/G snv
CUI: C0730366
Disease: Rod dystrophy
Rod dystrophy 		0.010 1.000 1 1996 1996
dbSNP: rs434102
rs434102
PRPH2
1.000 0.040 6 42698323 missense variant T/A;C;G snv 0.78; 1.2E-05
CUI: C1405854
Disease: Retinitis punctata albescens (disorder)
Retinitis punctata albescens (disorder) 		0.010 1.000 1 1997 1997
dbSNP: rs121918563
rs121918563
PRPH2
0.827 0.120 6 42721781 missense variant A/G snv 8.0E-06 1.4E-05
CUI: C2675552
Disease: Retinitis Pigmentosa 7, Digenic
Retinitis Pigmentosa 7, Digenic 		0.700 0
dbSNP: rs121918563
rs121918563
PRPH2
0.827 0.120 6 42721781 missense variant A/G snv 8.0E-06 1.4E-05
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		0.700 1.000 11 1991 2016
dbSNP: rs139185976
rs139185976
PRPH2
0.882 0.080 6 42704570 missense variant C/T snv 4.8E-05 9.8E-05
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: 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: 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: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		0.700 1.000 11 1991 2016
dbSNP: rs61755806
rs61755806
PRPH2
0.882 0.080 6 42704546 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		0.800 1.000 11 1991 2016
dbSNP: rs61755816
rs61755816
PRPH2
0.925 0.080 6 42704461 missense variant G/C;T snv
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		0.800 1.000 11 1991 2016
dbSNP: rs61754402
rs61754402
PRPH2
1.000 0.080 6 42722298 missense variant G/A;T snv 4.3E-04
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		0.700 0
dbSNP: rs61755770
rs61755770
PRPH2
0.925 0.080 6 42722202 missense variant G/A snv 1.1E-03 4.1E-03
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		0.700 0
dbSNP: rs61755771
rs61755771
PRPH2
0.827 0.160 6 42722199 stop gained G/A snv 1.6E-05 1.4E-05
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		0.700 0
dbSNP: rs61755777
rs61755777
PRPH2
1.000 0.080 6 42721977 inframe deletion CAG/- delins
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		0.700 0
dbSNP: rs61755781
rs61755781
PRPH2
0.851 0.080 6 42721913 missense variant T/C snv
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		0.700 0
dbSNP: rs61755783
rs61755783
PRPH2
0.763 0.080 6 42721911 missense variant G/A snv 1.4E-05
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		0.700 0
dbSNP: rs61755785
rs61755785
PRPH2
1.000 0.080 6 42721877 missense variant T/C snv
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		0.700 0
dbSNP: rs61755786
rs61755786
PRPH2
0.925 0.080 6 42721872 inframe deletion TTC/- delins
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		0.700 0
dbSNP: rs61755788
rs61755788
PRPH2
1.000 0.080 6 42721841 missense variant C/T snv
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		0.700 0
dbSNP: rs61755794
rs61755794
PRPH2
1.000 0.080 6 42721817 missense variant T/A snv
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		0.800 0