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 0.010 < 0.001 1 2011 2011
dbSNP: rs10156191
rs10156191
1 7 150856517 missense variant C/T snv 0.26 0.33 0.010 1.000 1 2015 2015
dbSNP: rs1042713
rs1042713
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.010 1.000 1 2009 2009
dbSNP: rs1042714
rs1042714
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.010 1.000 1 2009 2009
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2016 2016
dbSNP: rs1047964
rs1047964
3 11 117286177 3 prime UTR variant G/A;C;T snv 0.010 1.000 1 2011 2011
dbSNP: rs104894561
rs104894561
5 0.882 0.120 17 82265743 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1049793
rs1049793
4 0.882 0.080 7 150860577 missense variant C/G;T snv 0.37 0.37 0.010 1.000 1 2015 2015
dbSNP: rs1051730
rs1051730
43 0.641 0.600 15 78601997 synonymous variant G/A snv 0.27 0.26 0.010 < 0.001 1 2018 2018
dbSNP: rs1052133
rs1052133
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2014 2014
dbSNP: rs10803531
rs10803531
1 2 132469969 intron variant A/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs10994336
rs10994336
12 0.776 0.160 10 60420054 intron variant C/T snv 7.5E-02 0.010 < 0.001 1 2011 2011
dbSNP: rs1130409
rs1130409
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2014 2014
dbSNP: rs1143634
rs1143634
52 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 0.010 1.000 1 2010 2010
dbSNP: rs11542041
rs11542041
23 0.677 0.480 19 44908690 missense variant C/A;T snv 2.1E-05 0.010 1.000 1 2015 2015
dbSNP: rs11558538
rs11558538
19 0.695 0.400 2 138002079 missense variant C/T snv 1.0E-01 8.4E-02 0.010 1.000 1 2017 2017
dbSNP: rs1160720
rs1160720
1 13 35312538 intron variant A/G;T snv 0.010 < 0.001 1 2015 2015
dbSNP: rs11858956
rs11858956
2 1.000 0.040 15 69968889 intergenic variant T/C snv 0.61 0.010 1.000 1 2018 2018
dbSNP: rs1186902
rs1186902
2 1.000 0.040 6 89217243 missense variant T/C snv 0.27 0.22 0.010 < 0.001 1 2017 2017
dbSNP: rs121908214
rs121908214
4 0.925 0.080 19 13230185 missense variant T/G snv 0.010 1.000 1 1998 1998
dbSNP: rs121908225
rs121908225
12 0.790 0.120 19 13365448 missense variant G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs121918628
rs121918628
5 0.851 0.080 2 165998049 missense variant G/T snv 0.010 1.000 1 2008 2008
dbSNP: rs12273363
rs12273363
11 0.807 0.120 11 27723312 intron variant T/C snv 0.16 0.010 < 0.001 1 2015 2015
dbSNP: rs12355831
rs12355831
1 10 112442768 intron variant A/G snv 7.9E-02 0.010 1.000 1 2016 2016
dbSNP: rs1253956567
rs1253956567
2 1.000 0.040 2 166038072 missense variant C/G;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2014 2014