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: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.070 1.000 7 1997 2010
dbSNP: rs4961
rs4961
ADD1
27 0.683 0.400 4 2904980 missense variant G/A;T snv 1.2E-05; 0.20 0.030 1.000 3 2003 2014
dbSNP: rs12716641
rs12716641 		1 1.000 0.120 8 7041476 upstream gene variant T/A;C snv 0.710 1.000 2 2014 2015
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.020 1.000 2 2009 2017
dbSNP: rs2523946
rs2523946
HLA-A ; HCG9
2 0.925 0.200 6 29974166 upstream gene variant C/A;G;T snv 0.800 1.000 2 2011 2015
dbSNP: rs4077515
rs4077515
CARD9
11 0.763 0.360 9 136372044 missense variant C/A;T snv 4.0E-06; 0.41 0.710 1.000 2 2014 2017
dbSNP: rs1008898
rs1008898
C1GALT1
1 1.000 0.120 7 7233928 intron variant G/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1056675
rs1056675
MPHOSPH6
2 0.925 0.160 16 82148329 3 prime UTR variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs11084377
rs11084377
FCAR
1 1.000 0.120 19 54875434 intron variant A/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs12615793
rs12615793
ACYP2
4 0.851 0.280 2 54248777 intron variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1369270
rs1369270 		1 1.000 0.120 2 153179546 intron variant T/C snv 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 2015 2015
dbSNP: rs1800470
rs1800470
TGFB1
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 1.000 1 2005 2005
dbSNP: rs1800471
rs1800471
TGFB1
48 0.597 0.840 19 41352971 missense variant C/G;T snv 5.6E-02 0.010 1.000 1 2008 2008
dbSNP: rs2033562
rs2033562 		1 1.000 0.120 8 102535511 intron variant G/A;C;T snv 0.700 1.000 1 2015 2015
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.010 1.000 1 2019 2019
dbSNP: rs2296136
rs2296136
ANKRD16 ; FBH1
1 1.000 0.120 10 5887999 missense variant G/C;T snv 5.3E-02 0.010 1.000 1 2019 2019
dbSNP: rs2364480
rs2364480
LTBR
2 0.925 0.120 12 6386109 synonymous variant C/A;T snv 0.77; 2.0E-05 0.010 1.000 1 2012 2012
dbSNP: rs2378456
rs2378456
LPP
6 0.807 0.200 3 188885218 3 prime UTR variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs3129269
rs3129269 		1 1.000 0.120 6 33129837 downstream gene variant C/A;T snv 0.700 1.000 1 2014 2014
dbSNP: rs3204008
rs3204008
GNG2
1 1.000 0.120 14 51968341 3 prime UTR variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs3218896
rs3218896
IL1R2
6 0.807 0.160 2 102015190 intron variant T/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs373544789
rs373544789
FCAR
2 0.925 0.120 19 54889688 missense variant G/A;T snv 8.8E-05; 3.2E-05 0.010 1.000 1 2007 2007
dbSNP: rs3795299
rs3795299
IL22RA1
2 0.925 0.200 1 24120978 missense variant G/A;C;T snv 9.6E-05; 0.42; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs3796283
rs3796283
LPP
4 0.851 0.200 3 188885163 3 prime UTR variant A/G;T snv 0.010 1.000 1 2019 2019