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: rs28421666
rs28421666
2 1.000 0.120 6 32624960 upstream gene variant A/G snv 6.9E-02 0.700 1.000 2 2010 2016
dbSNP: rs1572072
rs1572072
2 1.000 0.120 13 23553071 intergenic variant G/T snv 0.36 0.700 1.000 1 2010 2010
dbSNP: rs29232
rs29232
4 0.925 0.240 6 29643654 intergenic variant C/T snv 0.39 0.700 1.000 1 2009 2009
dbSNP: rs3129055
rs3129055
2 1.000 0.120 6 29702484 regulatory region variant A/G snv 0.24 0.700 1.000 1 2009 2009
dbSNP: rs3731239
rs3731239
10 0.763 0.240 9 21974219 intron variant A/G snv 0.26 0.700 1.000 1 2016 2016
dbSNP: rs1412829
rs1412829
14 0.742 0.400 9 22043927 intron variant A/G snv 0.28 0.700 1.000 2 2010 2016
dbSNP: rs4977756
rs4977756
24 0.683 0.440 9 22068653 intron variant G/A snv 0.64 0.700 1.000 1 2016 2016
dbSNP: rs1063192
rs1063192
24 0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs162171
rs162171
1 14 80794033 intron variant A/C snv 0.64 0.700 1.000 1 2019 2019
dbSNP: rs17111237
rs17111237
1 14 80939997 intron variant A/G snv 0.15 0.700 1.000 1 2019 2019
dbSNP: rs6498114
rs6498114
2 1.000 0.080 16 10870261 intron variant G/T snv 0.78 0.700 1.000 1 2016 2016
dbSNP: rs31489
rs31489
10 0.763 0.320 5 1342599 intron variant C/A snv 0.41 0.700 1.000 1 2016 2016
dbSNP: rs401681
rs401681
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.700 1.000 1 2016 2016
dbSNP: rs1057519045
rs1057519045
6 0.851 0.160 10 121498522 missense variant T/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519854
rs1057519854
7 0.882 0.080 10 121488063 missense variant A/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519901
rs1057519901
5 0.925 0.080 10 121498525 missense variant T/G snv 0.700 1.000 1 2016 2016
dbSNP: rs121913476
rs121913476
7 0.851 0.080 10 121498520 missense variant A/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs2860580
rs2860580
2 1.000 0.120 6 29938914 upstream gene variant A/C;G;T snv 0.700 1.000 2 2010 2016
dbSNP: rs2517713
rs2517713
2 1.000 0.120 6 29950322 downstream gene variant G/A;T snv 0.700 1.000 1 2009 2009
dbSNP: rs2894207
rs2894207
8 0.882 0.160 6 31295974 intron variant T/C snv 0.20 0.700 1.000 2 2010 2016
dbSNP: rs104894229
rs104894229
73 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs104894230
rs104894230
73 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs189897
rs189897
2 1.000 0.120 3 37477054 intron variant T/A snv 0.13 0.700 1.000 1 2009 2009
dbSNP: rs6774494
rs6774494
4 0.882 0.160 3 169364845 intron variant G/A snv 0.42 0.700 1.000 2 2010 2016
dbSNP: rs11554290
rs11554290
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016