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: rs11838918
rs11838918
1 1.000 0.040 13 78836439 intron variant T/C snv 2.3E-02 0.800 1.000 1 2011 2011
dbSNP: rs13398848
rs13398848
1 1.000 0.040 2 84018044 intergenic variant A/G snv 7.5E-02 0.800 1.000 1 2011 2011
dbSNP: rs16831128
rs16831128
1 1.000 0.040 2 132386819 intergenic variant A/G snv 0.19 0.800 1.000 1 2011 2011
dbSNP: rs16891867
rs16891867
1 1.000 0.040 4 15395740 intron variant A/G snv 0.11 0.800 1.000 1 2011 2011
dbSNP: rs1861046
rs1861046
1 1.000 0.040 4 15396282 intron variant G/A snv 0.11 0.800 1.000 1 2011 2011
dbSNP: rs7762160
rs7762160
1 1.000 0.040 6 165601943 intron variant T/C snv 0.36 0.800 1.000 1 2011 2011
dbSNP: rs7950811
rs7950811
1 1.000 0.040 11 92917836 intron variant C/A;T snv 0.800 1.000 1 2011 2011
dbSNP: rs10492664
rs10492664
2 0.925 0.040 13 108163877 intergenic variant C/A;T snv 0.700 1.000 1 2008 2008
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.030 1.000 3 2010 2012
dbSNP: rs279871
rs279871
5 0.882 0.080 4 46303716 intron variant T/C snv 0.38 0.020 0.500 2 2010 2017
dbSNP: rs1799836
rs1799836
7 0.790 0.160 X 43768752 intron variant T/A;C snv 0.43 0.010 < 0.001 1 2016 2016
dbSNP: rs2053053
rs2053053
1 1.000 0.040 5 150229830 intron variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs383902
rs383902
1 1.000 0.040 15 58741975 intron variant C/T snv 0.49 0.010 1.000 1 2011 2011
dbSNP: rs56149945
rs56149945
49 0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02 0.010 1.000 1 2016 2016
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2020 2020
dbSNP: rs6323
rs6323
7 0.807 0.040 X 43731789 synonymous variant G/T snv 0.65 0.010 1.000 1 2014 2014
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2020 2020
dbSNP: rs9291283
rs9291283
2 0.925 0.080 4 46369816 intron variant G/A;T snv 0.010 < 0.001 1 2014 2014