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: rs35761398
rs35761398
19 0.701 0.520 1 23875429 missense variant TT/CC mnv 0.010 1.000 1 2019 2019
dbSNP: rs879761216
rs879761216
14 0.732 0.480 1 23875429 frameshift variant TT/C;T delins 0.010 1.000 1 2019 2019
dbSNP: rs71559680
rs71559680
6 0.827 0.120 6 21430497 intergenic variant TAG/CAT mnv 0.700 1.000 1 2016 2016
dbSNP: rs7517847
rs7517847
19 0.689 0.600 1 67215986 intron variant T/G snv 0.37 0.730 1.000 4 2008 2016
dbSNP: rs7574865
rs7574865
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.040 0.750 4 2008 2015
dbSNP: rs10185424
rs10185424
2 0.925 0.040 2 102046427 intron variant T/G snv 0.62 0.710 1.000 2 2015 2016
dbSNP: rs1946518
rs1946518
46 0.602 0.760 11 112164735 intron variant T/G snv 0.60 0.020 1.000 2 2014 2018
dbSNP: rs6088765
rs6088765
1 1.000 0.040 20 35211477 intron variant T/G snv 0.54 0.800 1.000 2 2012 2015
dbSNP: rs11083840
rs11083840
1 1.000 0.040 19 46616653 downstream gene variant T/G snv 0.44 0.700 1.000 1 2015 2015
dbSNP: rs111305875
rs111305875
5 0.827 0.120 6 167098098 intron variant T/G snv 3.0E-02 0.700 1.000 1 2016 2016
dbSNP: rs1127233
rs1127233
2 0.925 0.040 3 124908177 missense variant T/G snv 0.24 0.26 0.010 1.000 1 2006 2006
dbSNP: rs11465804
rs11465804
10 0.752 0.320 1 67236843 intron variant T/G snv 4.4E-02 5.4E-02 0.010 1.000 1 2017 2017
dbSNP: rs12987977
rs12987977
5 0.827 0.120 2 102358876 intron variant T/G snv 0.31 0.700 1.000 1 2016 2016
dbSNP: rs1440088
rs1440088
1 1.000 0.040 2 198006693 intron variant T/G snv 0.21 0.700 1.000 1 2015 2015
dbSNP: rs1569414
rs1569414
6 0.807 0.160 22 45331684 intron variant T/G snv 0.44 0.700 1.000 1 2016 2016
dbSNP: rs17188113
rs17188113
1 1.000 0.040 6 30163346 5 prime UTR variant T/G snv 0.13 0.700 1.000 1 2018 2018
dbSNP: rs17234657
rs17234657
3 0.882 0.120 5 40401407 intergenic variant T/G snv 0.14 0.010 1.000 1 2010 2010
dbSNP: rs2189234
rs2189234
3 1.000 0.040 4 105154341 intron variant T/G snv 0.62 0.700 1.000 1 2015 2015
dbSNP: rs2777491
rs2777491
1 1.000 0.040 15 41443512 intron variant T/G snv 0.35 0.700 1.000 1 2015 2015
dbSNP: rs34779708
rs34779708
6 0.827 0.120 10 35177257 intron variant T/G snv 0.33 0.700 1.000 1 2016 2016
dbSNP: rs3776414
rs3776414
DAP
6 0.827 0.120 5 10689450 intron variant T/G snv 0.48 0.700 1.000 1 2016 2016
dbSNP: rs4243971
rs4243971
6 0.827 0.120 20 32261714 intergenic variant T/G snv 0.64 0.700 1.000 1 2016 2016
dbSNP: rs6425143
rs6425143
5 0.827 0.120 1 172875212 intron variant T/G snv 0.34 0.700 1.000 1 2016 2016
dbSNP: rs7192
rs7192
7 0.827 0.200 6 32443869 missense variant T/G snv 0.64 0.61 0.010 1.000 1 2018 2018
dbSNP: rs7911117
rs7911117
1 1.000 0.040 10 26890667 regulatory region variant T/G snv 0.18 0.700 1.000 1 2017 2017