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: rs16910526
rs16910526
CLEC7A ; LOC105369655
12 0.742 0.280 12 10118488 stop gained A/C;G snv 6.2E-02 0.010 1.000 1 2010 2010
dbSNP: rs2306862
rs2306862
LRP5
2 0.925 0.120 11 68410042 synonymous variant C/T snv 0.14 0.12 0.010 1.000 1 2018 2018
dbSNP: rs4988321
rs4988321
LRP5
4 0.851 0.160 11 68406721 missense variant G/A;C snv 3.8E-02 0.010 1.000 1 2018 2018