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: rs5743708
rs5743708
98 0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02 0.020 1.000 2 2015 2016
dbSNP: rs5743313
rs5743313
4 0.851 0.200 4 186079213 intron variant C/T snv 0.19 0.010 1.000 1 2012 2012
dbSNP: rs1217371203
rs1217371203
4 0.882 0.120 3 122106342 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs1130866
rs1130866
9 0.827 0.160 2 85666618 missense variant G/A;C snv 0.50 0.010 1.000 1 2016 2016
dbSNP: rs4251961
rs4251961
10 0.763 0.200 2 113116890 intron variant T/C snv 0.29 0.010 1.000 1 2014 2014
dbSNP: rs17615
rs17615
CR2
5 0.827 0.200 1 207473117 missense variant G/A snv 0.26 0.31 0.010 1.000 1 2018 2018
dbSNP: rs17616
rs17616
CR2
1 1.000 0.080 1 207473578 missense variant G/A snv 0.26 0.30 0.010 1.000 1 2018 2018
dbSNP: rs4308977
rs4308977
CR2
2 0.925 0.160 1 207473553 missense variant T/A;C snv 4.0E-06; 0.27 0.010 1.000 1 2018 2018