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: rs140226130
rs140226130
CCDC178
8 0.790 0.200 18 33336845 intron variant -/CTTTTTGCT delins 7.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs1799752
rs1799752
ACE
25 0.677 0.480 17 63488529 intron variant -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT delins 0.010 1.000 1 2014 2014
dbSNP: rs3745297
rs3745297
HRC
10 0.790 0.120 19 49154952 missense variant A/C snv 0.41 0.38 0.020 1.000 2 2011 2018
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 2018 2019
dbSNP: rs762151808
rs762151808
SERPINA1
2 0.925 0.040 14 94378559 missense variant A/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs9351814
rs9351814 		4 0.882 0.040 6 71484004 intergenic variant A/C snv 0.35 0.010 1.000 1 2019 2019
dbSNP: rs10927887
rs10927887
CLCNKA
3 0.925 0.040 1 16024780 missense variant A/C;G snv 0.55 0.020 1.000 2 2011 2013
dbSNP: rs1801252
rs1801252
ADRB1
17 0.724 0.320 10 114044277 missense variant A/G snv 0.15 0.17 0.060 1.000 6 2000 2019
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.060 1.000 6 1999 2014
dbSNP: rs10455872
rs10455872
LPA
33 0.662 0.320 6 160589086 intron variant A/G snv 4.3E-02 0.010 1.000 1 2016 2016
dbSNP: rs10757274
rs10757274
CDKN2B-AS1
22 0.701 0.320 9 22096056 intron variant A/G snv 0.41 0.010 1.000 1 2009 2009
dbSNP: rs10757278
rs10757278
CDKN2B-AS1
44 0.620 0.520 9 22124478 intron variant A/G snv 0.40 0.010 1.000 1 2009 2009
dbSNP: rs1137101
rs1137101
LEPR
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 1.000 1 2009 2009
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1535
rs1535
FADS2
24 0.752 0.240 11 61830500 intron variant A/G snv 0.31 0.010 1.000 1 2012 2012
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2019 2019
dbSNP: rs1800625
rs1800625
AGER ; PBX2
39 0.641 0.680 6 32184665 upstream gene variant A/G snv 0.15 0.010 1.000 1 2012 2012
dbSNP: rs1805126
rs1805126
SCN5A
2 0.925 0.040 3 38550915 synonymous variant A/G snv 0.39 0.44 0.010 1.000 1 2018 2018
dbSNP: rs2383206
rs2383206
CDKN2B-AS1
17 0.742 0.320 9 22115027 intron variant A/G snv 0.49 0.010 1.000 1 2009 2009
dbSNP: rs2383207
rs2383207
CDKN2B-AS1
22 0.695 0.280 9 22115960 intron variant A/G snv 0.64 0.010 1.000 1 2009 2009
dbSNP: rs28763958
rs28763958
DSP
3 0.882 0.080 6 7558186 missense variant A/G snv 6.4E-05 2.8E-05 0.010 1.000 1 2010 2010
dbSNP: rs3212247
rs3212247
RIPK3
2 0.925 0.040 14 24340589 upstream gene variant A/G snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs3746444
rs3746444
MYH7B ; MIR499A ; MIR499B ; LOC107985393
105 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 0.010 1.000 1 2018 2018
dbSNP: rs6787362
rs6787362
FRMD4B
2 0.925 0.040 3 69178228 intron variant A/G snv 9.3E-02 0.010 1.000 1 2010 2010
dbSNP: rs1799998
rs1799998
CYP11B2
14 0.742 0.200 8 142918184 upstream gene variant A/G;T snv 0.38 0.020 1.000 2 2013 2020