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: rs11119805
rs11119805
2 1 211744902 3 prime UTR variant T/A snv 0.13 0.700 1.000 1 2013 2013
dbSNP: rs11120822
rs11120822
2 1 7053052 intron variant G/C snv 0.34 0.700 1.000 1 2013 2013
dbSNP: rs1514178
rs1514178
1 1 60739797 intron variant T/C snv 1.5E-02 0.700 1.000 1 2011 2011
dbSNP: rs2391388
rs2391388
2 1 95020269 intron variant A/C snv 0.49 0.700 1.000 1 2013 2013
dbSNP: rs3845427
rs3845427
1 1 181293302 intergenic variant T/A snv 0.52 0.700 1.000 1 2011 2011
dbSNP: rs6671200
rs6671200
2 1 95231973 intron variant A/C snv 0.90 0.700 1.000 1 2013 2013
dbSNP: rs6675668
rs6675668
2 1 95050081 intron variant T/G snv 0.43 0.700 1.000 1 2013 2013
dbSNP: rs860873
rs860873
2 1 94921652 intron variant G/A snv 0.39 0.700 1.000 1 2013 2013
dbSNP: rs9437689
rs9437689
1 1 95083980 regulatory region variant C/T snv 0.34 0.800 1.000 1 2012 2012
dbSNP: rs780093
rs780093
30 0.763 0.240 2 27519736 intron variant T/C snv 0.68 0.700 1.000 2 2011 2013
dbSNP: rs12472274
rs12472274
1 2 238186781 non coding transcript exon variant G/A;T snv 0.800 1.000 1 2012 2012
dbSNP: rs1260326
rs1260326
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.700 1.000 1 2011 2011
dbSNP: rs1260333
rs1260333
12 0.882 0.160 2 27525757 downstream gene variant A/G snv 0.58 0.700 1.000 1 2011 2011
dbSNP: rs1424760
rs1424760
1 2 162925277 intergenic variant C/T snv 0.52 0.800 1.000 1 2012 2012
dbSNP: rs16832011
rs16832011
LCT
1 2 135787729 downstream gene variant A/G snv 5.1E-02 0.700 1.000 1 2011 2011
dbSNP: rs2118674
rs2118674
2 2 170462384 intron variant A/T snv 0.87 0.700 1.000 1 2013 2013
dbSNP: rs2911711
rs2911711
6 0.925 0.120 2 27527679 downstream gene variant T/A snv 0.58 0.700 1.000 1 2011 2011
dbSNP: rs4666002
rs4666002
6 0.925 0.120 2 27617773 intron variant G/A;C snv 0.800 1.000 1 2012 2012
dbSNP: rs6722456
rs6722456
2 2 133771520 intergenic variant G/A snv 4.5E-02 0.700 1.000 1 2013 2013
dbSNP: rs780094
rs780094
62 0.658 0.400 2 27518370 intron variant T/C snv 0.67 0.700 1.000 1 2011 2011
dbSNP: rs197770
rs197770
1 3 37474336 intron variant A/G snv 0.12 0.800 1.000 1 2012 2012
dbSNP: rs334809
rs334809
4 0.925 0.080 3 3088537 intron variant A/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs4453795
rs4453795
2 3 192376186 intron variant A/G;T snv 0.700 1.000 1 2008 2008
dbSNP: rs9832727
rs9832727
1 3 142930268 intron variant C/A;G;T snv 0.800 1.000 1 2012 2012
dbSNP: rs10517480
rs10517480
2 4 59883111 intergenic variant A/T snv 0.27 0.700 1.000 1 2008 2008