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: rs79874540
rs79874540
HTR2B ; PSMD1
4 0.925 0.080 2 231123707 stop gained G/A snv 1.5E-03 1.2E-03 0.010 1.000 1 2016 2016
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 1.000 1 2006 2006
dbSNP: rs2943641
rs2943641 		18 0.763 0.160 2 226229029 intergenic variant T/C snv 0.67 0.010 1.000 1 2009 2009
dbSNP: rs268
rs268
LPL
41 0.637 0.480 8 19956018 missense variant A/G snv 1.3E-02 1.3E-02 0.010 1.000 1 1996 1996
dbSNP: rs35568725
rs35568725
PLIN2
3 0.925 0.080 9 19119676 missense variant A/G snv 4.1E-02 4.0E-02 0.010 1.000 1 2016 2016
dbSNP: rs2241766
rs2241766
ADIPOQ ; ADIPOQ-AS1
48 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 0.010 < 0.001 1 2010 2010
dbSNP: rs266729
rs266729
ADIPOQ
37 0.637 0.560 3 186841685 upstream gene variant C/A;G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs9997745
rs9997745
ACSL1
2 0.925 0.040 4 184816689 intron variant G/A snv 0.25 0.010 1.000 1 2010 2010
dbSNP: rs3732581
rs3732581
PARL
9 0.790 0.120 3 183840614 missense variant C/G;T snv 0.46; 1.2E-05 0.010 1.000 1 2009 2009
dbSNP: rs78311289
rs78311289
FGFR3
25 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs866477740
rs866477740
IGFALS ; SPSB3
1 1.000 0.040 16 1792152 missense variant A/G snv 0.010 1.000 1 2013 2013
dbSNP: rs1003887
rs1003887
INSL3
3 0.882 0.240 19 17816591 3 prime UTR variant C/T snv 0.69 0.010 1.000 1 2016 2016
dbSNP: rs146695489
rs146695489
ABCC8
2 0.925 0.160 11 17470170 missense variant T/C snv 2.5E-04 5.6E-05 0.010 1.000 1 2013 2013
dbSNP: rs137852671
rs137852671
ABCC8
10 0.790 0.160 11 17394295 missense variant C/T snv 0.020 1.000 2 2003 2011
dbSNP: rs1057518775
rs1057518775
KCNJ11
4 0.851 0.160 11 17387907 missense variant G/A;C snv 0.700 0
dbSNP: rs628031
rs628031
SLC22A1
8 0.807 0.280 6 160139813 missense variant A/C;G snv 5.3E-05; 0.63 0.010 1.000 1 2019 2019
dbSNP: rs683369
rs683369
SLC22A1
7 0.807 0.360 6 160130172 missense variant G/A;C;T snv 4.0E-06; 0.83; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs80356814
rs80356814
LMNA
15 0.732 0.320 1 156138697 synonymous variant C/T snv 8.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs11575937
rs11575937
LMNA
29 0.653 0.480 1 156136985 missense variant G/A;T snv 0.030 1.000 3 2000 2000
dbSNP: rs1042714
rs1042714
ADRB2
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.010 1.000 1 2010 2010
dbSNP: rs56149945
rs56149945
NR3C1
49 0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02 0.010 1.000 1 2017 2017
dbSNP: rs2918419
rs2918419
NR3C1
2 0.925 0.040 5 143342788 intron variant T/C snv 0.15 0.010 1.000 1 2008 2008
dbSNP: rs9402571
rs9402571 		4 0.882 0.080 6 134167822 downstream gene variant T/G snv 0.22 0.010 1.000 1 2008 2008
dbSNP: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.090 1.000 9 1999 2013
dbSNP: rs1801282
rs1801282
PPARG
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.090 1.000 9 1999 2013