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: rs1229984
rs1229984
ADH1B
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.050 0.800 5 2006 2016
dbSNP: rs2250889
rs2250889
MMP9 ; SLC12A5-AS1
24 0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05 0.010 < 0.001 1 2012 2012
dbSNP: rs2970847
rs2970847
PPARGC1A
3 0.882 0.200 4 23814301 synonymous variant T/C snv 0.84 0.86 0.010 1.000 1 2019 2019
dbSNP: rs2057482
rs2057482
HIF1A ; HIF1A-AS2 ; HIF1A-AS3
21 0.701 0.440 14 61747130 3 prime UTR variant T/C snv 0.84 0.80 0.010 1.000 1 2014 2014
dbSNP: rs1950902
rs1950902
MTHFD1
11 0.776 0.240 14 64415662 missense variant A/G snv 0.83 0.83 0.010 1.000 1 2015 2015
dbSNP: rs2682818
rs2682818
LIN7A ; MIR618 ; LOC105369869
14 0.742 0.320 12 80935757 non coding transcript exon variant A/C;T snv 0.83 0.010 1.000 1 2018 2018
dbSNP: rs790056
rs790056
F11R
2 0.925 0.080 1 160999795 intron variant C/T snv 0.81 0.83 0.010 1.000 1 2019 2019
dbSNP: rs459552
rs459552
APC
14 0.752 0.320 5 112841059 missense variant T/A;G snv 0.79 0.070 1.000 7 2003 2019
dbSNP: rs9912300
rs9912300
ACLY
5 0.827 0.120 17 41869011 intron variant G/A;C;T snv 4.2E-06; 0.78 0.010 1.000 1 2015 2015
dbSNP: rs590352
rs590352
ATXN7L3B
1 1.000 0.080 12 74538379 synonymous variant G/C snv 0.77 0.64 0.010 1.000 1 2020 2020
dbSNP: rs2243518
rs2243518
CDH17
1 1.000 0.080 8 94176622 stop gained T/A;C snv 0.77 0.010 1.000 1 2012 2012
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.030 1.000 3 2012 2014
dbSNP: rs26279
rs26279
MSH3
9 0.790 0.160 5 80873118 missense variant G/A snv 0.73 0.70 0.010 1.000 1 2015 2015
dbSNP: rs5743810
rs5743810
TLR1 ; TLR6
21 0.689 0.360 4 38828729 missense variant A/G snv 0.73 0.72 0.010 < 0.001 1 2019 2019
dbSNP: rs1799883
rs1799883
FABP2
36 0.658 0.440 4 119320747 missense variant T/A;C;G snv 0.73 0.010 1.000 1 2013 2013
dbSNP: rs1982151
rs1982151
RMI1
9 0.807 0.120 9 84002350 missense variant A/G;T snv 0.73 0.010 1.000 1 2010 2010
dbSNP: rs20541
rs20541
IL13 ; TH2LCRR
52 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 0.010 1.000 1 2012 2012
dbSNP: rs462779
rs462779
REV3L ; MFSD4B
4 0.851 0.120 6 111374684 missense variant G/A snv 0.72 0.67 0.010 1.000 1 2012 2012
dbSNP: rs361863
rs361863
ISX
1 1.000 0.080 22 35067169 missense variant A/G snv 0.71 0.73 0.010 1.000 1 2011 2011
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 0.100 0.824 17 2012 2018
dbSNP: rs10719
rs10719
DROSHA
24 0.677 0.680 5 31401340 3 prime UTR variant A/G;T snv 0.69 0.010 1.000 1 2015 2015
dbSNP: rs1444601
rs1444601
TOPBP1
1 1.000 0.080 3 133611099 synonymous variant G/A snv 0.69 0.72 0.010 1.000 1 2011 2011
dbSNP: rs373572
rs373572
RAD18
6 0.882 0.120 3 8913705 missense variant C/T snv 0.68 0.70 0.020 1.000 2 2007 2012
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.100 0.833 24 2004 2016
dbSNP: rs12303082
rs12303082
FAM186A
1 1.000 0.080 12 50360780 missense variant T/G snv 0.67 0.64 0.010 1.000 1 2015 2015