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: rs174548
rs174548
17 0.851 0.160 11 61803876 5 prime UTR variant C/G;T snv 0.700 1.000 3 2008 2013
dbSNP: rs4775041
rs4775041
8 1.000 0.040 15 58382496 intron variant G/C snv 0.24 0.700 1.000 3 2008 2013
dbSNP: rs10517480
rs10517480
2 4 59883111 intergenic variant A/T snv 0.27 0.700 1.000 1 2008 2008
dbSNP: rs10953730
rs10953730
2 7 113271355 intergenic variant A/C;G snv 0.25 0.700 1.000 1 2008 2008
dbSNP: rs1148259
rs1148259
1 10 37219522 synonymous variant A/C snv 0.50 0.44 0.700 1.000 1 2008 2008
dbSNP: rs1382269
rs1382269
1 3 137389640 intergenic variant T/C snv 0.39 0.700 1.000 1 2008 2008
dbSNP: rs1591830
rs1591830
2 6 150330764 upstream gene variant G/A snv 0.48 0.700 1.000 1 2008 2008
dbSNP: rs17267292
rs17267292
2 13 92670893 intron variant T/C snv 0.22 0.700 1.000 1 2008 2008
dbSNP: rs2194980
rs2194980
2 12 115064913 intergenic variant A/G;T snv 0.700 1.000 1 2008 2008
dbSNP: rs2900976
rs2900976
1 2 71731350 intergenic variant C/T snv 0.29 0.700 1.000 1 2008 2008
dbSNP: rs4453795
rs4453795
2 3 192376186 intron variant A/G;T snv 0.700 1.000 1 2008 2008
dbSNP: rs6807064
rs6807064
2 3 10494087 intron variant C/T snv 0.35 0.700 1.000 1 2008 2008
dbSNP: rs886144
rs886144
1 15 91174122 intron variant C/T snv 0.36 0.700 1.000 1 2008 2008
dbSNP: rs9309413
rs9309413
1 2 68343640 intergenic variant G/A;C;T snv 0.700 1.000 1 2008 2008
dbSNP: rs9354308
rs9354308
2 6 65855460 intergenic variant G/A snv 0.65 0.700 1.000 1 2008 2008
dbSNP: rs992037
rs992037
2 6 161580404 intron variant T/C snv 0.71 0.700 1.000 1 2008 2008
dbSNP: rs9924951
rs9924951
2 16 7454852 intron variant G/A snv 0.39 0.700 1.000 1 2008 2008
dbSNP: rs1260326
rs1260326
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.800 1.000 5 2010 2018
dbSNP: rs174547
rs174547
33 0.742 0.240 11 61803311 intron variant T/C snv 0.28 0.700 1.000 2 2010 2013
dbSNP: rs2014355
rs2014355
4 0.925 0.120 12 120737721 non coding transcript exon variant T/C snv 0.22 0.700 1.000 2 2010 2013
dbSNP: rs2286963
rs2286963
2 2 210195326 missense variant T/G snv 0.30 0.27 0.700 1.000 2 2010 2013
dbSNP: rs211718
rs211718
3 1 75640990 downstream gene variant T/C snv 0.75 0.700 1.000 1 2010 2010
dbSNP: rs8396
rs8396
4 4 158709665 3 prime UTR variant T/C snv 0.29 0.700 1.000 1 2010 2010
dbSNP: rs2280401
rs2280401
5 19 49496752 intron variant G/A snv 0.12 0.800 1.000 2 2011 2012
dbSNP: rs599839
rs599839
27 0.724 0.360 1 109279544 downstream gene variant G/A;C snv 0.700 1.000 2 2011 2012