Source: UNIPROT

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: rs121918581
rs121918581
PDE6B
0.925 0.080 4 662188 missense variant C/T snv 3.0E-05
CUI: C3151107
Disease: RETINITIS PIGMENTOSA 40 (disorder)
RETINITIS PIGMENTOSA 40 (disorder) 		0.800 1.000 7 1993 2012
dbSNP: rs144590560
rs144590560
PDE6B
1.000 4 625846 missense variant C/T snv 5.3E-04 4.5E-04
CUI: C3151107
Disease: RETINITIS PIGMENTOSA 40 (disorder)
RETINITIS PIGMENTOSA 40 (disorder) 		0.700 1.000 7 1993 2012
dbSNP: rs555600300
rs555600300
PDE6B
0.925 0.080 4 625925 missense variant G/A snv 6.0E-05 2.8E-05
CUI: C3151107
Disease: RETINITIS PIGMENTOSA 40 (disorder)
RETINITIS PIGMENTOSA 40 (disorder) 		0.700 1.000 7 1993 2012
dbSNP: rs751859807
rs751859807
PDE6B
1.000 4 662174 missense variant G/A snv 2.0E-05 2.1E-05
CUI: C3151107
Disease: RETINITIS PIGMENTOSA 40 (disorder)
RETINITIS PIGMENTOSA 40 (disorder) 		0.700 1.000 7 1993 2012
dbSNP: rs760766981
rs760766981
PDE6B
0.925 0.080 4 660579 missense variant T/C snv 6.8E-05 2.1E-05
CUI: C3151107
Disease: RETINITIS PIGMENTOSA 40 (disorder)
RETINITIS PIGMENTOSA 40 (disorder) 		0.700 1.000 7 1993 2012
dbSNP: rs527236088
rs527236088
PDE6B
0.882 0.080 4 660603 missense variant T/A snv 4.0E-06 7.0E-06
CUI: C3151107
Disease: RETINITIS PIGMENTOSA 40 (disorder)
RETINITIS PIGMENTOSA 40 (disorder) 		0.700 0
dbSNP: rs62295357
rs62295357
PDE6B
1.000 4 635913 missense variant T/C snv 4.4E-03 4.6E-03
CUI: C3151107
Disease: RETINITIS PIGMENTOSA 40 (disorder)
RETINITIS PIGMENTOSA 40 (disorder) 		0.700 0