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: rs11542035
rs11542035
1 19 44908706 missense variant G/A snv 1.9E-05 2.8E-05 0.010 1.000 1 1995 1995
dbSNP: rs730882087
rs730882087
1 19 11106640 missense variant GG/AC mnv 0.010 1.000 1 1995 1995
dbSNP: rs11575937
rs11575937
29 0.653 0.480 1 156136985 missense variant G/A;T snv 0.020 1.000 2 2000 2000
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.010 1.000 1 2001 2001
dbSNP: rs1337503417
rs1337503417
12 0.790 0.160 17 41612325 missense variant G/T snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs16139
rs16139
36 0.658 0.560 7 24285260 missense variant T/A;C snv 4.0E-06; 3.0E-02 0.010 1.000 1 2003 2003
dbSNP: rs80356814
rs80356814
15 0.732 0.320 1 156138697 synonymous variant C/T snv 8.0E-06 0.020 0.500 2 2002 2005
dbSNP: rs268
rs268
LPL
41 0.637 0.480 8 19956018 missense variant A/G snv 1.3E-02 1.3E-02 0.030 1.000 3 1999 2006
dbSNP: rs4994
rs4994
65 0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 0.020 1.000 2 1997 2006
dbSNP: rs3816873
rs3816873
9 0.790 0.200 4 99583507 missense variant T/C snv 0.25 0.26 0.010 1.000 1 2006 2006
dbSNP: rs1265538677
rs1265538677
10 0.790 0.200 13 46055808 synonymous variant A/G snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs751671151
rs751671151
1 8 42180286 missense variant A/G snv 4.0E-06 1.4E-05 0.010 1.000 1 2007 2007
dbSNP: rs11868035
rs11868035
14 0.763 0.200 17 17811787 splice region variant G/A snv 0.45 0.33 0.010 1.000 1 2008 2008
dbSNP: rs2297508
rs2297508
8 0.790 0.240 17 17812003 synonymous variant C/G;T snv 0.50; 7.5E-05 0.010 1.000 1 2008 2008
dbSNP: rs1799884
rs1799884
GCK
6 1.000 0.080 7 44189469 intron variant C/T snv 0.17 0.010 1.000 1 2009 2009
dbSNP: rs2230808
rs2230808
6 0.827 0.240 9 104800523 missense variant T/C snv 0.71 0.60 0.010 1.000 1 2009 2009
dbSNP: rs3737787
rs3737787
11 0.763 0.280 1 161039733 3 prime UTR variant G/A snv 0.21 0.010 1.000 1 2009 2009
dbSNP: rs3811381
rs3811381
CR1
11 0.763 0.240 1 207616743 missense variant C/A;G snv 8.0E-06; 0.24 0.010 1.000 1 2009 2009
dbSNP: rs7566605
rs7566605
11 0.752 0.320 2 118078449 regulatory region variant C/G snv 0.70 0.010 1.000 1 2009 2009
dbSNP: rs11774572
rs11774572
2 1.000 0.040 8 11589291 regulatory region variant C/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs2016520
rs2016520
16 0.752 0.320 6 35411001 5 prime UTR variant C/T snv 0.78 0.010 1.000 1 2010 2010
dbSNP: rs56225452
rs56225452
5 0.851 0.080 19 58513279 upstream gene variant C/T snv 0.18 0.010 1.000 1 2010 2010
dbSNP: rs10892151
rs10892151
3 1.000 11 117661016 intron variant C/T snv 9.7E-02 0.010 1.000 1 2011 2011
dbSNP: rs2043211
rs2043211
29 0.653 0.480 19 48234449 missense variant A/T snv 0.33 0.29 0.010 1.000 1 2011 2011
dbSNP: rs2229238
rs2229238
5 0.851 0.080 1 154465420 3 prime UTR variant T/A;C snv 0.80 0.010 1.000 1 2011 2011