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: rs147876778
rs147876778
CNGB3
6 0.807 0.120 8 86632864 missense variant C/T snv 4.6E-03 1.8E-03 0.020 1.000 2 2004 2018
dbSNP: rs104893967
rs104893967
GUCA1A
5 0.827 0.080 6 42178374 missense variant A/G snv 0.010 1.000 1 2005 2005