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: rs16910527
rs16910527
CLEC7A ; LOC105369655
3 0.925 0.080 12 10118534 missense variant A/C snv 2.5E-03 1.1E-02 0.010 1.000 1 2019 2019
dbSNP: rs7309123
rs7309123
CLEC7A ; LOC105369655
8 0.807 0.280 12 10119994 intron variant G/C snv 0.42 0.010 1.000 1 2019 2019