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: rs1061622
rs1061622
TNFRSF1B
33 0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22 0.010 < 0.001 1 2012 2012
dbSNP: rs111033560
rs111033560
PLN ; CEP85L
9 0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05 0.010 1.000 1 2003 2003
dbSNP: rs10519210
rs10519210 		1 1.000 0.040 15 63445726 intergenic variant T/C;G snv 0.800 1.000 1 2010 2010
dbSNP: rs1520832
rs1520832 		1 1.000 0.040 12 42859612 regulatory region variant T/C;G snv 0.800 1.000 1 2010 2010
dbSNP: rs10401969
rs10401969
SUGP1
25 0.776 0.240 19 19296909 intron variant T/C snv 0.10 0.700 1.000 1 2016 2016
dbSNP: rs11006544
rs11006544
LOC107984235
3 1.000 0.040 10 59510886 intergenic variant T/C snv 7.3E-03 0.700 1.000 1 2019 2019
dbSNP: rs11110004
rs11110004
ANKS1B
3 1.000 0.040 12 99694540 intron variant T/C snv 5.1E-03 0.700 1.000 1 2019 2019
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs1429117513
rs1429117513
LAG3
2 0.925 0.040 12 6775316 synonymous variant T/C snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs148133894
rs148133894 		3 1.000 0.040 16 24584678 intergenic variant T/C snv 2.4E-03 0.700 1.000 1 2019 2019
dbSNP: rs150381023
rs150381023
CELSR1
3 1.000 0.040 22 46423108 intron variant T/C snv 5.8E-03 0.700 1.000 1 2019 2019
dbSNP: rs1739843
rs1739843
HSPB7
4 0.882 0.040 1 16016759 intron variant T/C snv 0.62 0.010 1.000 1 2010 2010
dbSNP: rs174547
rs174547
FADS1 ; FADS2
33 0.742 0.240 11 61803311 intron variant T/C snv 0.28 0.700 1.000 1 2016 2016
dbSNP: rs1805127
rs1805127
KCNE1
17 0.732 0.240 21 34449523 missense variant T/C snv 0.64 2.0E-04 0.010 1.000 1 2010 2010
dbSNP: rs198358
rs198358
CLCN6 ; NPPA-AS1
4 0.925 0.040 1 11844019 3 prime UTR variant T/C snv 0.32 0.010 < 0.001 1 2013 2013
dbSNP: rs2074755
rs2074755
BAZ1B
20 0.807 0.240 7 73462836 non coding transcript exon variant T/C snv 9.2E-02 0.700 1.000 1 2016 2016
dbSNP: rs222826
rs222826 		16 0.851 0.120 2 146120964 regulatory region variant T/C snv 0.94 0.700 1.000 1 2016 2016
dbSNP: rs2276109
rs2276109
MMP12
18 0.701 0.440 11 102875061 upstream gene variant T/C snv 9.2E-02 0.010 < 0.001 1 2011 2011
dbSNP: rs3798220
rs3798220
LPA
16 0.732 0.160 6 160540105 missense variant T/C snv 5.6E-02 3.1E-02 0.010 1.000 1 2016 2016
dbSNP: rs4149056
rs4149056
SLCO1B1
45 0.633 0.480 12 21178615 missense variant T/C snv 0.13 0.12 0.010 1.000 1 2019 2019
dbSNP: rs4898
rs4898
SYN1 ; TIMP1 ; MIR4769
25 0.672 0.520 X 47585586 synonymous variant T/C snv 0.46 0.46 0.010 < 0.001 1 2018 2018
dbSNP: rs6026584
rs6026584
GNAS
3 0.925 0.040 20 58894018 intron variant T/C snv 0.70 0.010 1.000 1 2013 2013
dbSNP: rs61661343
rs61661343
LMNA
4 0.851 0.040 1 156130687 missense variant T/C snv 0.010 1.000 1 2004 2004
dbSNP: rs6533530
rs6533530 		16 0.851 0.120 4 110810780 intergenic variant T/C snv 0.47 0.700 1.000 1 2016 2016
dbSNP: rs737337
rs737337
DOCK6
6 0.925 0.040 19 11236817 synonymous variant T/C snv 0.15 0.20 0.010 1.000 1 2019 2019