Source: ALL
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: rs1042714
rs1042714
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.010 < 0.001 1 2001 2001
dbSNP: rs10486567
rs10486567
9 0.851 0.120 7 27936944 intron variant G/A snv 0.28 0.010 < 0.001 1 2010 2010
dbSNP: rs11196172
rs11196172
18 0.708 0.200 10 112967084 intron variant G/A snv 0.13 0.010 < 0.001 1 2016 2016
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 < 0.001 1 2017 2017
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 < 0.001 1 2009 2009
dbSNP: rs1241356540
rs1241356540
ACE
5 0.851 0.160 17 63497137 missense variant C/T snv 0.010 < 0.001 1 2006 2006
dbSNP: rs12733285
rs12733285
12 0.776 0.120 1 202952912 intron variant C/T snv 0.26 0.010 < 0.001 1 2012 2012
dbSNP: rs1332629192
rs1332629192
ALB
7 0.851 0.200 4 73404374 missense variant C/T snv 0.010 < 0.001 1 2006 2006
dbSNP: rs1342387
rs1342387
12 0.776 0.120 1 202945228 intron variant T/C snv 0.53 0.010 < 0.001 1 2012 2012
dbSNP: rs1388926124
rs1388926124
2 1.000 0.040 12 120978862 missense variant G/A snv 0.010 < 0.001 1 2006 2006
dbSNP: rs1444739794
rs1444739794
GCK
3 0.925 0.080 7 44153324 missense variant A/G snv 4.0E-06 0.010 < 0.001 1 1998 1998
dbSNP: rs150179526
rs150179526
2 1.000 0.040 2 162144091 missense variant T/C;G snv 2.7E-03 0.010 < 0.001 1 2002 2002
dbSNP: rs16139
rs16139
36 0.658 0.560 7 24285260 missense variant T/A;C snv 4.0E-06; 3.0E-02 0.010 < 0.001 1 2006 2006
dbSNP: rs17111503
rs17111503
7 0.925 0.160 1 55037775 upstream gene variant A/G snv 0.22 0.010 < 0.001 1 2017 2017
dbSNP: rs1799854
rs1799854
3 0.925 0.080 11 17427157 splice region variant G/A snv 0.44 0.37 0.010 < 0.001 1 2009 2009
dbSNP: rs1805002
rs1805002
4 0.882 0.160 11 6269890 missense variant G/A snv 4.4E-02 5.1E-02 0.010 < 0.001 1 2002 2002
dbSNP: rs193929355
rs193929355
4 0.882 0.120 11 17387128 missense variant C/T snv 0.010 < 0.001 1 2012 2012
dbSNP: rs193929356
rs193929356
4 0.925 0.080 11 17387103 missense variant T/A;C snv 0.010 < 0.001 1 2012 2012
dbSNP: rs2230774
rs2230774
12 0.807 0.240 2 11218994 missense variant G/C;T snv 0.49 0.010 < 0.001 1 2010 2010
dbSNP: rs2243250
rs2243250
IL4
61 0.570 0.760 5 132673462 upstream gene variant C/T snv 0.35 0.010 < 0.001 1 2018 2018
dbSNP: rs28936379
rs28936379
10 0.807 0.120 1 226888977 missense variant A/C;G;T snv 4.0E-06 0.010 < 0.001 1 1999 1999
dbSNP: rs361072
rs361072
4 0.882 0.120 3 138759702 intron variant G/A;C snv 0.010 < 0.001 1 2009 2009
dbSNP: rs5030717
rs5030717
9 0.807 0.240 9 117711556 intron variant A/G snv 0.13 0.010 < 0.001 1 2018 2018
dbSNP: rs5418
rs5418
3 1.000 0.040 17 7281773 5 prime UTR variant G/A snv 0.49 0.010 < 0.001 1 2011 2011
dbSNP: rs5421
rs5421
2 1.000 0.040 17 7285694 intron variant C/G snv 0.010 < 0.001 1 2011 2011