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: 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: rs1009080
rs1009080
2 1 29958713 intergenic variant G/A snv 0.54 0.700 1.000 1 2010 2010
dbSNP: rs11164835
rs11164835
2 1 92913536 intron variant G/A snv 0.35 0.700 1.000 1 2010 2010
dbSNP: rs12745968
rs12745968
2 1 92936280 intron variant A/G snv 0.36 0.800 1.000 1 2010 2010
dbSNP: rs144851946
rs144851946
1 1 156138701 missense variant G/A;T snv 1.4E-04; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1800871
rs1800871
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.010 1.000 1 2017 2017
dbSNP: rs324420
rs324420
48 0.637 0.440 1 46405089 missense variant C/A snv 0.24 0.26 0.010 1.000 1 2016 2016
dbSNP: rs373584456
rs373584456
1 1 156136335 missense variant C/T snv 2.4E-05 2.1E-05 0.010 1.000 1 2017 2017
dbSNP: rs374726751
rs374726751
1 1 156136245 missense variant C/T snv 2.4E-05 3.5E-05 0.010 1.000 1 2017 2017
dbSNP: rs374926367
rs374926367
1 1 156139089 missense variant A/G snv 1.2E-04 1.0E-04 0.010 1.000 1 2017 2017
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 < 0.001 1 2011 2011
dbSNP: rs4650608
rs4650608
7 0.851 0.040 1 78772330 intergenic variant T/C snv 0.29 0.700 1.000 1 2014 2014
dbSNP: rs4949526
rs4949526
3 1.000 0.040 1 29959372 intergenic variant T/C snv 0.54 0.800 1.000 1 2010 2010
dbSNP: rs5177
rs5177
6 0.851 0.120 1 53246063 3 prime UTR variant G/A;C snv 0.010 1.000 1 2020 2020
dbSNP: rs771065515
rs771065515
2 1 156115240 missense variant A/G snv 2.5E-05 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs821616
rs821616
13 0.752 0.200 1 232008852 missense variant A/T snv 0.26 0.29 0.010 1.000 1 2013 2013
dbSNP: rs10496702
rs10496702
2 2 133247997 intron variant G/A snv 0.18 0.800 1.000 1 2010 2010
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: rs1344706
rs1344706
21 0.701 0.160 2 184913701 intron variant A/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs3771829
rs3771829
9 0.790 0.120 2 75137019 intron variant C/G snv 0.11 0.010 1.000 1 2014 2014
dbSNP: rs4675690
rs4675690
3 2 207643083 intergenic variant C/T snv 0.48 0.010 1.000 1 2008 2008
dbSNP: rs7600871
rs7600871
2 2 133257389 intron variant C/T snv 0.16 0.700 1.000 1 2010 2010
dbSNP: rs53576
rs53576
42 0.641 0.320 3 8762685 intron variant A/G;T snv 0.020 1.000 2 2015 2018
dbSNP: rs17075286
rs17075286
2 3 43189231 intergenic variant C/G snv 5.9E-02 0.800 1.000 1 2011 2011
dbSNP: rs2054399
rs2054399
4 0.925 0.040 3 178623794 intron variant G/A;C snv 0.700 1.000 1 2012 2012