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: rs1006737
rs1006737
27 0.695 0.120 12 2236129 intron variant G/A snv 0.36 0.750 1.000 6 2014 2018
dbSNP: rs1009080
rs1009080
2 1 29958713 intergenic variant G/A snv 0.54 0.700 1.000 1 2010 2010
dbSNP: rs1018381
rs1018381
6 0.882 0.040 6 15656839 intron variant G/A snv 0.16 0.010 1.000 1 2012 2012
dbSNP: rs10275045
rs10275045
5 0.882 0.160 7 1881190 intron variant C/T snv 0.35 0.700 1.000 1 2014 2014
dbSNP: rs1044396
rs1044396
17 0.742 0.240 20 63349782 missense variant G/A;C snv 0.47; 6.1E-05 0.010 1.000 1 2012 2012
dbSNP: rs104893877
rs104893877
59 0.614 0.360 4 89828149 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs10496702
rs10496702
2 2 133247997 intron variant G/A snv 0.18 0.800 1.000 1 2010 2010
dbSNP: rs1059004
rs1059004
4 0.925 0.040 21 33028155 3 prime UTR variant C/A snv 0.41 0.010 1.000 1 2013 2013
dbSNP: rs10812227
rs10812227
2 1.000 0.080 9 2548556 intron variant C/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs10949808
rs10949808
2 7 156255955 intergenic variant T/G snv 0.45 0.800 1.000 1 2010 2010
dbSNP: rs10994336
rs10994336
12 0.776 0.160 10 60420054 intron variant C/T snv 7.5E-02 0.010 1.000 1 2015 2015
dbSNP: rs110402
rs110402
12 0.790 0.120 17 45802681 intron variant G/A;C snv 0.020 1.000 2 2011 2019
dbSNP: rs1106076
rs1106076
2 1.000 0.080 7 5581212 regulatory region variant C/A;G snv 0.010 1.000 1 2013 2013
dbSNP: rs11142387
rs11142387
7 9 70383416 downstream gene variant A/C snv 0.49 0.010 1.000 1 2017 2017
dbSNP: rs11164835
rs11164835
2 1 92913536 intron variant G/A snv 0.35 0.700 1.000 1 2010 2010
dbSNP: rs1126647
rs1126647
8 0.827 0.160 4 73743328 3 prime UTR variant A/T snv 0.31 0.010 1.000 1 2018 2018
dbSNP: rs1133503
rs1133503
4 1.000 0.040 6 95606712 3 prime UTR variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs11740562
rs11740562
2 5 157515277 intron variant A/G snv 7.1E-02 0.800 1.000 1 2010 2010
dbSNP: rs11789399
rs11789399
5 0.882 0.040 9 118597008 intergenic variant G/A;C snv 0.800 1.000 1 2010 2010
dbSNP: rs11789407
rs11789407
2 9 118597268 intergenic variant C/A snv 0.44 0.700 1.000 1 2010 2010
dbSNP: rs120074125
rs120074125
7 0.882 0.160 11 6393301 missense variant T/G snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.040 0.750 4 2006 2012
dbSNP: rs121918805
rs121918805
4 0.925 0.080 2 166002660 missense variant C/A;T snv 2.0E-05 0.010 1.000 1 2007 2007
dbSNP: rs12201676
rs12201676
4 0.925 0.040 6 89022382 regulatory region variant T/C snv 0.21 0.800 1.000 1 2010 2010
dbSNP: rs1224426272
rs1224426272
CIT
6 0.925 0.040 12 119869138 missense variant C/T snv 0.010 1.000 1 2019 2019