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: rs2072590
rs2072590
4 0.851 0.120 2 176177905 non coding transcript exon variant A/C;T snv 0.020 1.000 2 2012 2017
dbSNP: rs4320932
rs4320932
3 0.882 0.120 11 2150371 intron variant T/C snv 0.19 0.020 1.000 2 2011 2013
dbSNP: rs495139
rs495139
4 0.882 0.120 18 676008 intron variant G/C snv 0.63 0.020 1.000 2 2010 2018
dbSNP: rs633862
rs633862
5 0.925 0.120 9 133279871 upstream gene variant T/C snv 0.49 0.020 1.000 2 2014 2017
dbSNP: rs10017134
rs10017134
2 0.925 0.120 4 69591303 intron variant T/C snv 0.75 0.010 1.000 1 2019 2019
dbSNP: rs1002076
rs1002076
2 0.925 0.120 1 10378834 3 prime UTR variant G/A snv 0.33 0.010 < 0.001 1 2015 2015
dbSNP: rs10088218
rs10088218
4 0.851 0.120 8 128531703 intron variant G/A snv 0.13 0.010 1.000 1 2012 2012
dbSNP: rs10098821
rs10098821
3 0.882 0.120 8 128546982 intron variant C/T snv 7.6E-02 0.010 1.000 1 2012 2012
dbSNP: rs1017134
rs1017134
2 0.925 0.120 7 35307237 intergenic variant G/A snv 0.47 0.010 1.000 1 2019 2019
dbSNP: rs10260419
rs10260419
3 0.882 0.120 7 11524758 intron variant C/G snv 0.26 0.010 1.000 1 2019 2019
dbSNP: rs1057156
rs1057156
2 0.925 0.120 3 128081228 3 prime UTR variant A/G snv 0.22 0.23 0.010 1.000 1 2019 2019
dbSNP: rs10788679
rs10788679
2 0.925 0.120 1 17590467 intron variant A/G snv 0.59 0.010 1.000 1 2018 2018
dbSNP: rs11084033
rs11084033
4 0.882 0.120 19 50850699 intron variant C/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs11175194
rs11175194
2 0.925 0.120 12 63871057 intron variant G/A snv 0.15 0.010 1.000 1 2014 2014
dbSNP: rs1127313
rs1127313
1 1.000 0.120 1 154583949 3 prime UTR variant G/A snv 0.41 0.010 1.000 1 2016 2016
dbSNP: rs1136905
rs1136905
3 0.882 0.120 6 32518660 missense variant T/A;C snv 4.2E-03 0.010 1.000 1 2018 2018
dbSNP: rs114972508
rs114972508
2 0.925 0.120 7 55020815 intron variant T/C snv 1.4E-02 0.010 1.000 1 2019 2019
dbSNP: rs11683487
rs11683487
NMI
3 0.882 0.120 2 151286035 intron variant G/T snv 0.36 0.010 1.000 1 2009 2009
dbSNP: rs11696662
rs11696662
2 0.925 0.120 20 41161795 intron variant C/T snv 4.4E-02 0.010 1.000 1 2014 2014
dbSNP: rs11782652
rs11782652
4 0.851 0.120 8 81741409 intron variant A/G snv 6.6E-02 0.010 1.000 1 2013 2013
dbSNP: rs1192691
rs1192691
2 0.925 0.120 10 36880367 regulatory region variant G/T snv 0.90 0.010 1.000 1 2014 2014
dbSNP: rs13063604
rs13063604
3 0.882 0.120 3 128085887 intron variant G/A snv 0.23 0.010 1.000 1 2011 2011
dbSNP: rs1413299
rs1413299
2 0.925 0.120 9 98998959 intron variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs142091544
rs142091544
2 0.925 0.120 5 168286995 upstream gene variant C/T snv 2.1E-02 0.010 1.000 1 2019 2019
dbSNP: rs1444192401
rs1444192401
4 0.882 0.120 12 52235347 missense variant G/A snv 0.010 1.000 1 2017 2017