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: 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: rs121918566
rs121918566
PRPH2
1.000 0.080 6 42698389 stop gained C/T snv
CUI: C1842914
Disease: Adult-Onset Vitelliform Macular Dystrophy
Adult-Onset Vitelliform Macular Dystrophy 		0.700 0
dbSNP: rs61748432
rs61748432
PRPH2
1.000 0.080 6 42698422 missense variant C/T snv
CUI: C1842914
Disease: Adult-Onset Vitelliform Macular Dystrophy
Adult-Onset Vitelliform Macular Dystrophy 		0.700 1.000 5 1997 2016
dbSNP: rs61748429
rs61748429
PRPH2
1.000 0.040 6 42698438 frameshift variant CA/- del
CUI: C4551999
Disease: MACULAR DYSTROPHY, PATTERNED, 1
MACULAR DYSTROPHY, PATTERNED, 1 		0.700 0
dbSNP: rs1554268546
rs1554268546
PRPH2
1.000 0.080 6 42698469 frameshift variant CGACGTCT/- del
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs62645936
rs62645936
PRPH2
1.000 0.080 6 42704391 missense variant C/A;G;T snv 8.3E-06; 1.7E-05
CUI: C1842914
Disease: Adult-Onset Vitelliform Macular Dystrophy
Adult-Onset Vitelliform Macular Dystrophy 		0.700 0
dbSNP: rs62645935
rs62645935
PRPH2
0.925 0.080 6 42704396 missense variant C/T snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.010 1.000 1 2014 2014
dbSNP: rs62645935
rs62645935
PRPH2
0.925 0.080 6 42704396 missense variant C/T snv
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		0.700 0
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: rs61755817
rs61755817
PRPH2
1.000 0.080 6 42704457 missense variant A/C;G snv 8.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
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: rs61755816
rs61755816
PRPH2
0.925 0.080 6 42704461 missense variant G/C;T snv
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		0.010 1.000 1 1994 1994
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: rs61755815
rs61755815
PRPH2
0.851 0.080 6 42704463 missense variant T/G snv
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.010 1.000 1 1996 1996
dbSNP: rs61755815
rs61755815
PRPH2
0.851 0.080 6 42704463 missense variant T/G snv
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		0.010 1.000 1 1996 1996
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: rs61755814
rs61755814
PRPH2
1.000 0.040 6 42704478 stop gained G/A snv
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		0.700 1.000 1 2019 2019
dbSNP: rs1554269053
rs1554269053
PRPH2
1.000 0.080 6 42704529 missense variant A/G snv
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.700 0
dbSNP: rs1554269053
rs1554269053
PRPH2
1.000 0.080 6 42704529 missense variant A/G snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs61755810
rs61755810
PRPH2
1.000 0.040 6 42704534 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C4551999
Disease: MACULAR DYSTROPHY, PATTERNED, 1
MACULAR DYSTROPHY, PATTERNED, 1 		0.700 1.000 4 1993 2016
dbSNP: rs61755809
rs61755809
PRPH2
0.925 0.080 6 42704535 missense variant G/A;T snv 4.0E-06
CUI: C4551999
Disease: MACULAR DYSTROPHY, PATTERNED, 1
MACULAR DYSTROPHY, PATTERNED, 1 		0.700 1.000 4 1993 2016
dbSNP: rs61755809
rs61755809
PRPH2
0.925 0.080 6 42704535 missense variant G/A;T snv 4.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.010 1.000 1 2007 2007
dbSNP: rs61755807
rs61755807
PRPH2
1.000 0.080 6 42704535 inframe deletion TGG/- delins
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		0.700 0
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: rs61755806
rs61755806
PRPH2
0.882 0.080 6 42704546 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		0.010 1.000 1 2015 2015