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: rs964184
rs964184
ZPR1
47 0.716 0.440 11 116778201 3 prime UTR variant G/C snv 0.82 0.830 1.000 6 2010 2019
dbSNP: rs11542041
rs11542041
APOE
23 0.677 0.480 19 44908690 missense variant C/A;T snv 2.1E-05 0.040 0.750 4 1984 2004
dbSNP: rs780094
rs780094
GCKR
62 0.658 0.400 2 27518370 intron variant T/C snv 0.67 0.730 1.000 4 2010 2017
dbSNP: rs773891125
rs773891125
LPL
6 0.827 0.120 8 19955896 frameshift variant CT/- delins 0.030 1.000 3 2000 2016
dbSNP: rs17145738
rs17145738
TBL2
11 0.851 0.200 7 73568544 3 prime UTR variant C/T snv 0.11 0.710 1.000 2 2014 2017
dbSNP: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.020 1.000 2 2006 2013
dbSNP: rs2854116
rs2854116
APOC3
7 0.807 0.200 11 116829453 upstream gene variant C/T snv 0.51 0.020 1.000 2 2010 2011
dbSNP: rs2854117
rs2854117
APOC3
6 0.851 0.200 11 116829426 upstream gene variant T/A;C snv 0.020 1.000 2 2010 2011
dbSNP: rs7903146
rs7903146
TCF7L2
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.020 1.000 2 2010 2015
dbSNP: rs1028728
rs1028728
POSTN
3 0.925 0.040 13 37599679 upstream gene variant A/T snv 0.20 0.010 1.000 1 2011 2011
dbSNP: rs1057156731
rs1057156731
LMNA
3 0.925 0.120 1 156137730 missense variant T/A snv 0.010 1.000 1 2016 2016
dbSNP: rs10790162
rs10790162
BUD13
7 0.882 0.160 11 116768388 intron variant A/G;T snv 0.93 0.010 1.000 1 2017 2017
dbSNP: rs10808546
rs10808546 		7 8 125483576 intron variant C/T snv 0.39 0.700 1.000 1 2017 2017
dbSNP: rs10889332
rs10889332
DOCK7
4 1.000 0.120 1 62485187 3 prime UTR variant C/T snv 0.39 0.010 1.000 1 2016 2016
dbSNP: rs10911205
rs10911205
LAMC1
1 1 183040142 intron variant C/A snv 0.33 0.700 1.000 1 2017 2017
dbSNP: rs10911232
rs10911232
LAMC1
1 1 183083398 intron variant C/T snv 0.33 0.700 1.000 1 2017 2017
dbSNP: rs11122316
rs11122316
GALNT2
2 1.000 0.120 1 230101356 intron variant A/G snv 0.42 0.010 1.000 1 2016 2016
dbSNP: rs11206517
rs11206517
PCSK9
4 1.000 0.120 1 55060755 intron variant T/C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs11575937
rs11575937
LMNA
29 0.653 0.480 1 156136985 missense variant G/A;T snv 0.010 1.000 1 2000 2000
dbSNP: rs11576175
rs11576175
CTSS
2 1.000 1 150754918 intron variant G/A snv 7.2E-02 0.010 1.000 1 2013 2013
dbSNP: rs11634397
rs11634397 		2 1.000 0.080 15 80139880 downstream gene variant A/G snv 0.57 0.010 1.000 1 2015 2015
dbSNP: rs11635252
rs11635252
CRTC3
4 0.925 0.080 15 90528542 upstream gene variant T/C snv 0.88 0.010 1.000 1 2014 2014
dbSNP: rs1168013
rs1168013
DOCK7
6 1.000 0.120 1 62531167 intron variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1169310
rs1169310
HNF1A ; C12orf43
3 12 121001630 3 prime UTR variant G/A snv 0.31 0.010 1.000 1 2014 2014
dbSNP: rs1169313
rs1169313
C12orf43
6 12 121004867 intron variant T/A;C snv 0.010 1.000 1 2014 2014