Gene: CNGB3 ×
Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs397515360
rs397515360
CNGB3
8 0.807 0.160 8 86643781 frameshift variant G/- del 1.8E-03 0.700 1.000 1 2000 2000
dbSNP: rs200805087
rs200805087
CNGB3
2 1.000 0.120 8 86579224 stop gained G/A snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs776896038
rs776896038
CNGB3
2 1.000 0.120 8 86632787 frameshift variant A/-;AA delins 4.0E-06 0.700 0