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: rs12675595
rs12675595
3 8 53255365 upstream gene variant G/A snv 6.2E-02 0.010 1.000 1 2014 2014
dbSNP: rs2066702
rs2066702
7 0.882 0.080 4 99307860 missense variant G/A snv 1.5E-02 5.9E-02 0.010 1.000 1 2011 2011
dbSNP: rs2242480
rs2242480
5 0.882 0.120 7 99763843 intron variant C/T snv 0.22 0.32 0.010 1.000 1 2011 2011
dbSNP: rs3762894
rs3762894
2 1.000 0.080 4 99144933 intron variant T/C snv 0.19 0.010 1.000 1 2011 2011
dbSNP: rs4292394
rs4292394
2 4 69107231 synonymous variant C/G snv 0.56 0.59 0.010 1.000 1 2012 2012
dbSNP: rs4646440
rs4646440
2 7 99763247 intron variant G/A snv 5.1E-02 0.010 1.000 1 2011 2011
dbSNP: rs6600893
rs6600893
2 4 69113183 downstream gene variant T/C snv 0.59 0.010 1.000 1 2012 2012
dbSNP: rs7439366
rs7439366
16 0.752 0.320 4 69098620 missense variant T/C snv 0.56 0.57 0.010 1.000 1 2012 2012
dbSNP: rs752949
rs752949
3 0.925 0.160 11 35306201 synonymous variant C/T snv 0.23 0.22 0.010 1.000 1 2000 2000
dbSNP: rs8192475
rs8192475
1 15 78618888 missense variant C/G;T snv 2.9E-02 0.010 1.000 1 2011 2011