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: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.905 21 2004 2018
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.100 0.545 11 2004 2015
dbSNP: rs775144154
rs775144154
38 0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 0.100 0.909 11 2004 2019
dbSNP: rs2228145
rs2228145
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.850 0.889 9 2010 2019
dbSNP: rs2230926
rs2230926
27 0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02 0.080 1.000 8 2010 2017
dbSNP: rs763361
rs763361
21 0.689 0.520 18 69864406 missense variant T/A;C snv 4.0E-06; 0.52 0.080 0.875 8 2009 2017
dbSNP: rs4810485
rs4810485
16 0.732 0.480 20 46119308 intron variant T/A;G snv 0.840 1.000 7 2008 2016
dbSNP: rs1893592
rs1893592
12 0.742 0.280 21 42434957 missense variant A/C;G snv 0.27; 8.0E-06 0.820 1.000 6 2014 2019
dbSNP: rs1980422
rs1980422
9 0.776 0.320 2 203745673 intergenic variant C/A;T snv 0.820 0.833 6 2012 2019
dbSNP: rs2201841
rs2201841
14 0.716 0.440 1 67228519 intron variant A/G;T snv 0.060 0.667 6 2008 2019
dbSNP: rs231775
rs231775
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.060 0.833 6 1998 2017
dbSNP: rs555743307
rs555743307
20 0.695 0.440 16 27342243 missense variant G/A;T snv 3.6E-05; 2.9E-04 0.060 0.833 6 2004 2013
dbSNP: rs6457617
rs6457617
11 0.763 0.480 6 32696074 intergenic variant C/A;T snv 0.820 1.000 6 2007 2018
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.050 1.000 5 2006 2019
dbSNP: rs2812378
rs2812378
8 0.790 0.200 9 34710263 intron variant G/A;C snv 0.820 1.000 5 2008 2017
dbSNP: rs2900180
rs2900180
5 0.827 0.280 9 120944104 regulatory region variant T/A;C snv 0.830 1.000 5 2007 2019
dbSNP: rs1222213359
rs1222213359
62 0.574 0.720 6 43770966 missense variant G/A snv 0.040 1.000 4 2005 2018
dbSNP: rs3027898
rs3027898
11 0.752 0.360 X 154010439 downstream gene variant C/A snv 0.040 0.500 4 2010 2018
dbSNP: rs8192284
rs8192284
19 0.724 0.720 1 154454494 missense variant A/C;T snv 0.730 1.000 4 2010 2012
dbSNP: rs11568821
rs11568821
10 0.827 0.200 2 241851760 intron variant C/G;T snv 0.030 1.000 3 2007 2018
dbSNP: rs17235409
rs17235409
31 0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06 0.030 0.667 3 2000 2018
dbSNP: rs17264332
rs17264332
2 0.925 0.200 6 137684378 intron variant A/G;T snv 0.800 1.000 3 2014 2019
dbSNP: rs17337023
rs17337023
1 1.000 0.120 7 55171181 synonymous variant T/A;G snv 0.030 1.000 3 2012 2017
dbSNP: rs1748033
rs1748033
2 0.925 0.120 1 17336167 missense variant T/C;G snv 0.63; 4.0E-06 0.030 1.000 3 2014 2018
dbSNP: rs187238
rs187238
48 0.602 0.680 11 112164265 intron variant C/A;G snv 0.030 0.333 3 2005 2014