Source: CLINVAR

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: rs201541131
rs201541131
PDE6B
0.925 0.080 4 662197 missense variant C/T snv 1.5E-05 7.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 2015 2015
dbSNP: rs201541131
rs201541131
PDE6B
0.925 0.080 4 662197 missense variant C/T snv 1.5E-05 7.0E-06
CUI: C3151107
Disease: RETINITIS PIGMENTOSA 40 (disorder)
RETINITIS PIGMENTOSA 40 (disorder) 		0.700 0