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: rs12009
rs12009
1 1.000 0.080 9 125235024 3 prime UTR variant G/A;T snv 0.54 0.010 1.000 1 2010 2010
dbSNP: rs12233338
rs12233338
1 1.000 0.080 21 33228611 upstream gene variant T/C snv 0.21 0.010 1.000 1 2018 2018
dbSNP: rs12354
rs12354
2 0.925 0.080 12 6390939 3 prime UTR variant T/A;G snv 1.6E-04; 0.76 0.010 1.000 1 2017 2017
dbSNP: rs12375841
rs12375841
1 1.000 0.080 9 4850141 intron variant T/C snv 0.33 0.010 1.000 1 2012 2012
dbSNP: rs12484550
rs12484550
1 1.000 0.080 22 21587626 intron variant C/T snv 0.18 0.700 1.000 1 2013 2013
dbSNP: rs12649554
rs12649554
1 1.000 0.080 4 100975519 regulatory region variant T/C snv 0.65 0.700 1.000 1 2011 2011
dbSNP: rs1265115
rs1265115
5 0.925 0.080 6 31149298 non coding transcript exon variant C/A;T snv 0.700 1.000 1 2013 2013
dbSNP: rs12979680
rs12979680
1 1.000 0.080 19 21691444 intergenic variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs13213149
rs13213149
1 1.000 0.080 6 33071909 intron variant T/C snv 0.28 0.700 1.000 1 2013 2013
dbSNP: rs1431400
rs1431400
1 1.000 0.080 6 33073399 intron variant C/T snv 0.29 0.700 1.000 1 2013 2013
dbSNP: rs1431401
rs1431401
1 1.000 0.080 6 33073409 intron variant G/A snv 0.29 0.700 1.000 1 2013 2013
dbSNP: rs146352658
rs146352658
1 1.000 0.080 9 21384972 missense variant C/T snv 7.6E-04 2.4E-04 0.010 1.000 1 2017 2017
dbSNP: rs149505691
rs149505691
1 1.000 0.080 8 144505069 missense variant G/A snv 1.5E-04 6.3E-05 0.010 1.000 1 2017 2017
dbSNP: rs1519551
rs1519551
1 1.000 0.080 4 141649319 intron variant G/A snv 0.55 0.010 1.000 1 2014 2014
dbSNP: rs154977
rs154977
1 1.000 0.080 6 32932241 downstream gene variant C/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs17056316
rs17056316
1 1.000 0.080 4 170892334 downstream gene variant A/G snv 2.6E-03 0.700 1.000 1 2013 2013
dbSNP: rs17214519
rs17214519
1 1.000 0.080 6 33064411 downstream gene variant G/A;T snv 0.700 1.000 1 2013 2013
dbSNP: rs17385627
rs17385627
1 1.000 0.080 13 76953629 synonymous variant T/A snv 0.13 0.11 0.010 1.000 1 2017 2017
dbSNP: rs17470171
rs17470171
1 1.000 0.080 13 76946724 upstream gene variant C/A snv 0.11 0.010 1.000 1 2017 2017
dbSNP: rs17780725
rs17780725
1 1.000 0.080 10 48422844 intron variant G/A snv 0.17 0.010 1.000 1 2018 2018
dbSNP: rs1866139
rs1866139
2 1.000 0.080 2 85694266 intron variant G/C snv 0.51 0.010 < 0.001 1 2015 2015
dbSNP: rs1897824
rs1897824
1 1.000 0.080 19 44472854 non coding transcript exon variant T/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs201339654
rs201339654
2 0.925 0.080 14 69786192 missense variant C/G;T snv 8.0E-06; 2.0E-05 0.010 1.000 1 2018 2018
dbSNP: rs2051598
rs2051598
1 1.000 0.080 6 32741586 intron variant G/A snv 0.71 0.700 1.000 1 2013 2013
dbSNP: rs2071351
rs2071351
1 1.000 0.080 6 33076153 intron variant A/G snv 0.24 0.29 0.700 1.000 1 2013 2013