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: rs6784615
rs6784615
NISCH
2 1.000 0.080 3 52472410 intron variant C/T snv 0.96 0.96 0.010 1.000 1 2017 2017
dbSNP: rs2986017
rs2986017
CALHM1
6 0.851 0.120 10 103458495 missense variant A/G snv 0.79 0.80 0.050 0.800 5 2009 2010
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.030 1.000 3 2000 2010
dbSNP: rs1476679
rs1476679
ZCWPW1
2 0.925 0.080 7 100406823 intron variant C/A;T snv 4.0E-06; 0.74 0.010 1.000 1 2016 2016
dbSNP: rs5516
rs5516
KLK1
6 0.827 0.120 19 50820217 missense variant C/G snv 0.69 0.67 0.010 1.000 1 2015 2015
dbSNP: rs1061170
rs1061170
CFH
72 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.010 < 0.001 1 2007 2007
dbSNP: rs10410544
rs10410544
SIRT2
6 0.827 0.120 19 38894892 intron variant T/C snv 0.68 0.67 0.010 1.000 1 2014 2014
dbSNP: rs5882
rs5882
CETP
35 0.649 0.400 16 56982180 missense variant G/A;C snv 0.62 0.020 0.500 2 2012 2015
dbSNP: rs165932
rs165932
PSEN1
2 0.925 0.080 14 73198145 intron variant G/A;T snv 0.61 0.020 1.000 2 2006 2008
dbSNP: rs4343
rs4343
ACE
14 0.742 0.480 17 63488670 synonymous variant G/A snv 0.53 0.010 < 0.001 1 2015 2015
dbSNP: rs1699102
rs1699102
SORL1
3 0.882 0.080 11 121586253 missense variant C/G;T snv 3.2E-05; 0.53 0.010 1.000 1 2017 2017
dbSNP: rs1137101
rs1137101
LEPR
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 < 0.001 1 2010 2010
dbSNP: rs12364988
rs12364988
SORL1
1 1.000 0.080 11 121496917 missense variant T/A;C;G snv 0.49; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2013 2013
dbSNP: rs4309
rs4309
ACE
3 0.925 0.120 17 63482562 synonymous variant C/T snv 0.46 0.36 0.010 1.000 1 2015 2015
dbSNP: rs6084
rs6084
LIPC
2 0.925 0.120 15 58545839 synonymous variant C/A;G snv 1.2E-05; 0.43 0.010 < 0.001 1 2008 2008
dbSNP: rs710446
rs710446
KNG1
4 0.925 0.120 3 186742138 missense variant T/C snv 0.42 0.44 0.010 1.000 1 2015 2015
dbSNP: rs4548513
rs4548513
CTNNA3
2 0.925 0.080 10 66280567 missense variant C/G;T snv 0.40 0.010 1.000 1 2007 2007
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 1.000 1 2003 2003
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2018 2018
dbSNP: rs1060743
rs1060743
BIN1
2 0.925 0.080 2 127068957 synonymous variant A/G snv 0.34 0.29 0.010 1.000 1 2014 2014
dbSNP: rs3747742
rs3747742
TREML2
3 0.882 0.080 6 41194780 missense variant T/C snv 0.33 0.29 0.010 1.000 1 2017 2017
dbSNP: rs2073067
rs2073067
MTHFD1L
1 1.000 0.080 6 150876016 intron variant C/G snv 0.32 0.35 0.010 1.000 1 2012 2012
dbSNP: rs1051338
rs1051338
LIPA
7 0.807 0.120 10 89247603 missense variant T/G snv 0.32 0.26 0.010 1.000 1 2006 2006
dbSNP: rs6691117
rs6691117
CR1
2 1.000 0.080 1 207609586 missense variant A/G snv 0.32 0.41 0.010 1.000 1 2014 2014