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: rs10065172
rs10065172
8 0.790 0.200 5 150848436 synonymous variant C/T snv 0.17 0.21 0.010 1.000 1 2009 2009
dbSNP: rs10484718
rs10484718
1 1.000 0.080 6 127859906 intron variant A/T snv 8.6E-02 0.010 1.000 1 2014 2014
dbSNP: rs10491434
rs10491434
2 1.000 0.080 5 35877812 3 prime UTR variant A/G snv 0.32 0.010 1.000 1 2014 2014
dbSNP: rs10754558
rs10754558
20 0.695 0.480 1 247448734 3 prime UTR variant G/C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs10883365
rs10883365
3 0.882 0.080 10 99528007 non coding transcript exon variant G/A snv 0.52 0.010 1.000 1 2009 2009
dbSNP: rs10930046
rs10930046
3 0.882 0.200 2 162281473 missense variant T/C snv 9.7E-02 0.16 0.010 1.000 1 2013 2013
dbSNP: rs11100722
rs11100722
1 1.000 0.080 4 141616307 intergenic variant G/C snv 0.77 0.010 1.000 1 2017 2017
dbSNP: rs11209026
rs11209026
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.010 1.000 1 2008 2008
dbSNP: rs1131498
rs1131498
13 0.732 0.360 1 169707345 missense variant A/G snv 0.21 0.22 0.010 1.000 1 2006 2006
dbSNP: rs11552708
rs11552708
5 0.882 0.240 17 7559238 missense variant G/A;C snv 0.13; 4.2E-06 0.010 1.000 1 2012 2012
dbSNP: rs1161457931
rs1161457931
9 0.763 0.200 22 37084836 missense variant C/T snv 6.4E-06 0.010 1.000 1 2018 2018
dbSNP: rs1208663703
rs1208663703
9 0.763 0.200 22 37086414 missense variant T/C snv 5.2E-06 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1248696
rs1248696
8 0.807 0.080 10 77856847 missense variant T/A;C snv 0.93 0.010 < 0.001 1 2011 2011
dbSNP: rs12722039
rs12722039
2 0.925 0.120 6 32637507 missense variant G/A snv 5.7E-02 8.4E-02 0.010 1.000 1 1998 1998
dbSNP: rs1275561861
rs1275561861
23 0.672 0.360 6 29944350 missense variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs1545620
rs1545620
6 0.827 0.080 19 17192965 missense variant T/A;G snv 1.3E-05; 0.52 0.010 1.000 1 2006 2006
dbSNP: rs1800693
rs1800693
9 0.776 0.360 12 6330843 non coding transcript exon variant T/C snv 0.36; 4.0E-06 0.38 0.010 < 0.001 1 2015 2015
dbSNP: rs1800796
rs1800796
74 0.555 0.760 7 22726627 non coding transcript exon variant G/C snv 9.9E-02 0.010 1.000 1 2017 2017
dbSNP: rs1801198
rs1801198
26 0.677 0.400 22 30615623 missense variant G/A;C snv 5.6E-05; 0.57 0.010 1.000 1 2012 2012
dbSNP: rs187238
rs187238
48 0.602 0.680 11 112164265 intron variant C/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs1946518
rs1946518
46 0.602 0.760 11 112164735 intron variant T/G snv 0.60 0.010 1.000 1 2015 2015
dbSNP: rs199474387
rs199474387
6 0.807 0.240 6 29942870 missense variant G/C;T snv 0.010 1.000 1 2002 2002
dbSNP: rs2043211
rs2043211
29 0.653 0.480 19 48234449 missense variant A/T snv 0.33 0.29 0.010 1.000 1 2019 2019
dbSNP: rs2275913
rs2275913
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.010 1.000 1 2017 2017