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: rs6471482
rs6471482
CNGB3
1.000 0.120 8 86667075 stop gained A/C;T snv 0.89 0.89
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		0.700 1.000 1 2017 2017