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 14 2000 2014
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.833 12 1999 2014
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.090 0.778 9 1997 2015
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.060 0.833 6 1997 2009
dbSNP: rs12917707
rs12917707
UMOD
11 0.827 0.200 16 20356368 upstream gene variant G/T snv 0.14 0.720 1.000 5 2009 2015
dbSNP: rs1801282
rs1801282
PPARG
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.050 1.000 5 2005 2016
dbSNP: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.050 1.000 5 2005 2016
dbSNP: rs1222213359
rs1222213359
VEGFA
62 0.574 0.720 6 43770966 missense variant G/A snv 0.030 1.000 3 2008 2012
dbSNP: rs12437854
rs12437854
LOC107983974
2 0.925 0.080 15 93598604 intron variant T/G snv 0.10 0.030 1.000 3 2012 2014
dbSNP: rs3732378
rs3732378
CX3CR1
48 0.620 0.720 3 39265671 missense variant G/A snv 0.14 0.12 0.030 1.000 3 2003 2016
dbSNP: rs3732379
rs3732379
CX3CR1
38 0.637 0.680 3 39265765 missense variant C/T snv 0.22 0.22 0.030 1.000 3 2003 2016
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.030 1.000 3 2005 2010
dbSNP: rs5186
rs5186
AGTR1
38 0.630 0.560 3 148742201 3 prime UTR variant A/C snv 0.23 0.21 0.030 1.000 3 2009 2019
dbSNP: rs73885319
rs73885319
APOL1
6 0.851 0.120 22 36265860 missense variant A/G snv 1.6E-02 6.6E-02 0.720 1.000 2 2010 2019
dbSNP: rs1047891
rs1047891
CPS1
34 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.700 1.000 2 2018 2019
dbSNP: rs12460876
rs12460876
SLC7A9
4 1.000 0.080 19 32865985 intron variant T/C snv 0.36 0.700 1.000 2 2010 2018
dbSNP: rs6420094
rs6420094
SLC34A1
5 1.000 0.080 5 177390635 intron variant A/G snv 0.29 0.700 1.000 2 2010 2016
dbSNP: rs7422339
rs7422339
CPS1
5 1.000 0.080 2 210675783 missense variant C/A snv 0.700 1.000 2 2010 2016
dbSNP: rs7805747
rs7805747
PRKAG2
5 1.000 0.080 7 151710715 intron variant G/A snv 0.26 0.700 1.000 2 2010 2016
dbSNP: rs963837
rs963837
LINC02859 ; LOC101928338
8 0.925 0.120 11 30727543 intergenic variant T/C snv 0.35 0.700 1.000 2 2016 2019
dbSNP: rs9895661
rs9895661
BCAS3
10 0.882 0.200 17 61379228 non coding transcript exon variant C/T snv 0.69 0.700 1.000 2 2010 2019
dbSNP: rs1020608562
rs1020608562
CCR5 ; CCR5AS
9 0.807 0.160 3 46373738 missense variant T/C snv 4.0E-06 0.020 1.000 2 2011 2016
dbSNP: rs1042636
rs1042636
CASR
23 0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02 0.020 1.000 2 2002 2009
dbSNP: rs1617640
rs1617640
EPO
15 0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv 0.020 1.000 2 2008 2010
dbSNP: rs1800470
rs1800470
TGFB1
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.020 1.000 2 2005 2015