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 0.100 1.000 13 2003 2019
dbSNP: rs1415088003
rs1415088003
ACE
7 0.827 0.160 17 63489038 synonymous variant C/T snv 4.0E-06 0.020 1.000 2 2010 2016
dbSNP: rs11591147
rs11591147
PCSK9
28 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.010 1.000 1 2019 2019
dbSNP: rs121918071
rs121918071
TTR
4 0.882 0.240 18 31595209 missense variant C/A snv 0.010 1.000 1 2019 2019
dbSNP: rs1222213359
rs1222213359
VEGFA
62 0.574 0.720 6 43770966 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs13397985
rs13397985
SP110 ; SP140
5 0.827 0.280 2 230226508 intron variant T/C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs1527243
rs1527243 		2 0.925 0.120 2 122533446 intron variant C/G;T snv 0.800 1.000 1 2010 2010
dbSNP: rs17185536
rs17185536 		2 1.000 0.080 6 100173055 upstream gene variant C/G;T snv 0.710 1.000 1 2018 2018
dbSNP: rs2383204
rs2383204
CDKN2B-AS1
6 0.827 0.160 9 22055049 intron variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs305061
rs305061 		4 0.851 0.280 16 85942053 intron variant C/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs53576
rs53576
CAV3 ; OXTR
42 0.641 0.320 3 8762685 intron variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs699947
rs699947
VEGFA
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.010 1.000 1 2013 2013
dbSNP: rs766603251
rs766603251
PDE5A
2 1.000 0.080 4 119565333 synonymous variant G/A snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs872071
rs872071
IRF4
13 0.742 0.360 6 411064 3 prime UTR variant A/G;T snv 0.700 1.000 1 2012 2012
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 2010 2010
dbSNP: rs267607161
rs267607161
TTR
16 0.742 0.360 18 31598580 missense variant G/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs79721419
rs79721419 		4 0.851 0.160 9 22200957 downstream gene variant G/A snv 7.4E-03 0.010 1.000 1 2019 2019
dbSNP: rs140186760
rs140186760
CDH13 ; LOC101928417
1 1.000 0.080 16 82961263 intron variant G/A snv 7.4E-03 0.700 1.000 1 2019 2019
dbSNP: rs12336160
rs12336160 		2 0.925 0.120 9 33283584 downstream gene variant G/T snv 6.3E-02 0.800 1.000 1 2010 2010
dbSNP: rs113340062
rs113340062
MATN2
1 1.000 0.080 8 97891932 intron variant T/C snv 6.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs10861905
rs10861905 		2 0.925 0.120 12 108373556 regulatory region variant C/A snv 7.6E-02 0.800 1.000 1 2010 2010
dbSNP: rs10194115
rs10194115
TTC7A
2 0.925 0.120 2 47012873 intron variant G/T snv 0.10 0.800 1.000 1 2010 2010
dbSNP: rs41279104
rs41279104
NOS1
6 0.827 0.160 12 117439680 intron variant C/T snv 0.11 0.010 1.000 1 2014 2014
dbSNP: rs10835054
rs10835054
SLC5A12
1 1.000 0.080 11 26670117 3 prime UTR variant C/T snv 0.13 0.700 1.000 1 2019 2019
dbSNP: rs735665
rs735665
GRAMD1B
8 0.776 0.280 11 123490689 intron variant G/A snv 0.15 0.700 1.000 1 2012 2012