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: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.060 1.000 6 2010 2018
dbSNP: rs1042713
rs1042713
ADRB2
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.040 1.000 4 2007 2018
dbSNP: rs1042714
rs1042714
ADRB2
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.040 0.750 4 2009 2018
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: rs121918598
rs121918598
RYR2
4 0.851 0.080 1 237648523 missense variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs1258130495
rs1258130495
EDNRA
3 0.882 0.040 4 147485727 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs1544223
rs1544223
ADORA3 ; TMIGD3
1 1.000 0.040 1 111503935 intron variant C/T snv 0.72 0.010 1.000 1 2018 2018
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: rs200536955
rs200536955
HSPB6 ; PROSER3
3 0.925 0.040 19 35756980 missense variant G/A;T snv 7.0E-04 0.010 1.000 1 2018 2018
dbSNP: rs2241562
rs2241562
HRH2
2 0.925 0.040 5 175684809 intron variant G/C;T snv 1.0E-03 0.010 1.000 1 2018 2018
dbSNP: rs371401403
rs371401403
MYBPC3
6 0.807 0.080 11 47335996 missense variant G/A;T snv 6.8E-05; 7.9E-05 0.010 1.000 1 2018 2018
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: 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: rs587782951
rs587782951
JPH2
6 0.807 0.080 20 44160305 missense variant G/T snv 0.010 1.000 1 2018 2018
dbSNP: rs8179090
rs8179090
TIMP2
12 0.752 0.280 17 78925807 upstream gene variant C/G snv 1.6E-02 0.010 1.000 1 2018 2018
dbSNP: rs37369
rs37369
AGXT2
9 0.807 0.120 5 35037010 missense variant C/T snv 0.21 0.25 0.020 1.000 2 2016 2017
dbSNP: rs671
rs671
ALDH2
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.020 1.000 2 2014 2017
dbSNP: rs2149954
rs2149954
LINC02227
5 0.882 0.080 5 158393594 intron variant C/T snv 0.37 0.010 1.000 1 2017 2017
dbSNP: rs2306235
rs2306235
PLEKHO1
6 0.827 0.040 1 150150942 missense variant C/G;T snv 1.1E-02; 1.6E-05 4.4E-03 0.010 1.000 1 2017 2017
dbSNP: rs28714259
rs28714259 		5 0.882 0.120 15 23463380 intergenic variant G/A snv 0.19 0.010 1.000 1 2017 2017
dbSNP: rs370579379
rs370579379
RBP4 ; FFAR4
6 0.827 0.160 10 93594018 missense variant C/T snv 4.0E-06 1.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs397507549
rs397507549
PTPN11
13 0.742 0.240 12 112489104 missense variant C/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs397516881
rs397516881
BAG3
7 0.827 0.120 10 119676917 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs8259
rs8259
BSG
9 0.776 0.200 19 582927 3 prime UTR variant T/A snv 0.39 0.010 1.000 1 2017 2017
dbSNP: rs9838915
rs9838915
KLF15
4 0.882 0.120 3 126347377 intron variant G/A snv 0.19 0.010 1.000 1 2017 2017