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: rs2069825
rs2069825
IL6 ; STEAP1B ; IL6-AS1
2 1.000 0.040 7 22725718 non coding transcript exon variant -/CC delins 6.7E-05 0.010 1.000 1 2011 2011
dbSNP: rs1449295847
rs1449295847
CXCL12
1 10 44372999 frameshift variant -/G delins 0.010 1.000 1 2014 2014
dbSNP: rs1799752
rs1799752
ACE
25 0.677 0.480 17 63488529 intron variant -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT delins 0.020 1.000 2 2009 2016
dbSNP: rs133049
rs133049
MRTFA
4 0.882 0.080 22 40635351 intron variant A/- delins 0.82 0.010 < 0.001 1 2018 2018
dbSNP: rs463312
rs463312
TUBB1
4 1.000 0.040 20 59022915 missense variant A/C snv 7.7E-02 5.7E-02 0.020 1.000 2 2005 2007
dbSNP: rs5186
rs5186
AGTR1
38 0.630 0.560 3 148742201 3 prime UTR variant A/C snv 0.23 0.21 0.020 1.000 2 2009 2017
dbSNP: rs1406961
rs1406961
NKAIN4
2 20 63264568 intron variant A/C snv 0.87 0.710 1.000 1 2011 2011
dbSNP: rs151290
rs151290
KCNQ1
2 1.000 0.080 11 2800385 intron variant A/C snv 0.67 0.010 < 0.001 1 2019 2019
dbSNP: rs2969037
rs2969037
LOC107986758
1 7 2494758 regulatory region variant A/C snv 0.78 0.700 1.000 1 2019 2019
dbSNP: rs312053
rs312053 		1 2 21205177 intergenic variant A/C snv 0.35 0.700 1.000 1 2019 2019
dbSNP: rs4387287
rs4387287
STN1
4 10 103918139 5 prime UTR variant A/C snv 0.69 0.010 1.000 1 2012 2012
dbSNP: rs607342
rs607342 		1 6 139509081 intron variant A/C snv 0.53 0.700 1.000 1 2019 2019
dbSNP: rs693482
rs693482
JAK1
1 1 64897943 intron variant A/C snv 0.010 < 0.001 1 2005 2005
dbSNP: rs764948729
rs764948729
PLG
3 0.925 0.080 6 160731092 missense variant A/C snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs397509365
rs397509365
LDLR
5 0.925 0.080 19 11116197 missense variant A/C;G snv 8.0E-06 0.020 0.500 2 2002 2005
dbSNP: rs1044498
rs1044498
ENPP1
15 0.752 0.360 6 131851228 missense variant A/C;G snv 0.19 0.010 1.000 1 2011 2011
dbSNP: rs220733
rs220733
MAS1
3 1.000 0.080 6 159897771 intron variant A/C;G snv 0.99 0.010 < 0.001 1 2011 2011
dbSNP: rs2943634
rs2943634 		15 0.763 0.200 2 226203364 intergenic variant A/C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs4923461
rs4923461
BDNF-AS ; LINC00678
5 0.925 0.120 11 27635363 intron variant A/C;G snv 0.010 < 0.001 1 2013 2013
dbSNP: rs5963409
rs5963409
OTC
3 1.000 0.080 X 38351716 intron variant A/C;G snv 0.010 1.000 1 2009 2009
dbSNP: rs7763350
rs7763350 		1 6 43381570 intron variant A/C;G snv 0.44 0.700 1.000 1 2019 2019
dbSNP: rs9972727
rs9972727 		1 16 31137821 upstream gene variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs854560
rs854560
PON1
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.020 1.000 2 2000 2007
dbSNP: rs17465637
rs17465637
MIA3
11 0.790 0.200 1 222650187 intron variant A/C;G;T snv 0.64; 6.4E-06 0.020 1.000 2 2012 2019
dbSNP: rs11084753
rs11084753 		6 1.000 0.080 19 33831232 intergenic variant A/C;G;T snv 0.65 0.010 1.000 1 2010 2010