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: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.030 1.000 3 2005 2019
dbSNP: rs405509
rs405509
APOE
30 0.667 0.480 19 44905579 upstream gene variant T/G snv 0.58 0.020 1.000 2 2009 2009
dbSNP: rs60910145
rs60910145
APOL1
5 0.851 0.120 22 36265988 missense variant T/G snv 1.6E-02 6.6E-02 0.020 1.000 2 2016 2018
dbSNP: rs1242780
rs1242780
PTPRN2
2 1.000 0.080 7 157757146 intron variant T/G snv 0.25 0.700 1.000 1 2018 2018
dbSNP: rs3770636
rs3770636
LRP2
2 2 169346323 intron variant T/G snv 4.6E-02 0.010 1.000 1 2018 2018
dbSNP: rs850799
rs850799 		2 1.000 0.080 15 23679185 intergenic variant T/G snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs1260326
rs1260326
GCKR
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.710 1.000 3 2010 2014
dbSNP: rs1464816
rs1464816
REN
2 1.000 0.120 1 204159726 intron variant T/C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs4362
rs4362
ACE
9 0.807 0.240 17 63496400 missense variant T/C;G snv 0.52; 1.2E-05 0.51 0.010 1.000 1 2016 2016
dbSNP: rs12460876
rs12460876
SLC7A9
4 1.000 0.080 19 32865985 intron variant T/C snv 0.36 0.800 1.000 3 2010 2018
dbSNP: rs2569512
rs2569512
ILF3
5 0.925 0.080 19 10679486 intron variant T/C snv 0.76 0.030 1.000 3 2011 2015
dbSNP: rs6929846
rs6929846
BTN2A1
10 0.827 0.160 6 26458037 5 prime UTR variant T/C snv 0.70 0.030 1.000 3 2011 2015
dbSNP: rs10794720
rs10794720
WDR37
4 1.000 0.080 10 1110225 intron variant T/C snv 0.89 0.700 1.000 2 2010 2012
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.020 1.000 2 2000 2006
dbSNP: rs267734
rs267734 		7 0.925 0.120 1 150979001 upstream gene variant T/C snv 0.14 0.700 1.000 2 2010 2012
dbSNP: rs6465825
rs6465825 		4 1.000 0.080 7 77787122 downstream gene variant T/C snv 0.41 0.700 1.000 2 2010 2012
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.020 1.000 2 2009 2016
dbSNP: rs679620
rs679620
MMP3
17 0.716 0.360 11 102842889 missense variant T/C snv 0.58 0.57 0.020 1.000 2 2009 2009
dbSNP: rs1001030257
rs1001030257
PDE4D
1 5 58988559 missense variant T/C snv 2.0E-05 2.1E-05 0.010 1.000 1 2009 2009
dbSNP: rs102274
rs102274
TMEM258
3 1.000 0.080 11 61790354 non coding transcript exon variant T/C snv 0.28 0.700 1.000 1 2018 2018
dbSNP: rs102275
rs102275
TMEM258
18 0.827 0.320 11 61790331 non coding transcript exon variant T/C snv 0.47 0.700 1.000 1 2018 2018
dbSNP: rs10906850
rs10906850
LOC105376434
2 1.000 0.080 10 15183055 regulatory region variant T/C snv 0.29 0.010 1.000 1 2019 2019
dbSNP: rs1131012
rs1131012
PECAM1
10 0.763 0.280 17 64350416 missense variant T/C snv 0.38 0.010 1.000 1 2009 2009
dbSNP: rs1156619081
rs1156619081
UCP3
1 11 74005787 missense variant T/C snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1168357
rs1168357
GRIP1
1 12 66356099 intron variant T/C snv 0.50 0.700 1.000 1 2012 2012