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: rs17185536
rs17185536 		2 1.000 0.080 6 100173055 upstream gene variant C/G;T snv 0.710 1.000 1 2018 2018
dbSNP: rs57989773
rs57989773 		2 1.000 0.080 6 100181202 downstream gene variant T/C snv 0.23 0.710 1.000 1 2019 2019
dbSNP: rs9810233
rs9810233 		2 0.925 0.200 3 105292046 intergenic variant A/G snv 0.25 0.800 1.000 1 2012 2012
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: rs17483466
rs17483466
ACOXL ; MIR4435-2HG
5 0.827 0.280 2 111039881 intron variant A/G snv 0.15 0.700 1.000 1 2012 2012
dbSNP: rs2806864
rs2806864
PTGFRN
2 0.925 0.120 1 116927159 intron variant C/G snv 0.17 0.800 1.000 1 2010 2010
dbSNP: rs2682826
rs2682826
NOS1
11 0.807 0.280 12 117215033 3 prime UTR variant G/A snv 0.25 0.010 1.000 1 2014 2014
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: 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: 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: rs1527243
rs1527243 		2 0.925 0.120 2 122533446 intron variant C/G;T snv 0.800 1.000 1 2010 2010
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
dbSNP: rs2781659
rs2781659
ARG1
1 1.000 0.080 6 131570680 intron variant A/G snv 0.42 0.010 1.000 1 2015 2015
dbSNP: rs2070744
rs2070744
NOS3
54 0.608 0.680 7 150992991 intron variant C/T snv 0.70 0.010 1.000 1 2013 2013
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: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2017 2017
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: 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: 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: 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: rs121918071
rs121918071
TTR
4 0.882 0.240 18 31595209 missense variant C/A snv 0.010 1.000 1 2019 2019
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: 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: 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: rs9378805
rs9378805 		4 0.851 0.280 6 417727 intergenic variant A/C snv 0.36 0.700 1.000 1 2012 2012