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: rs1635498
rs1635498
EXO1
9 0.807 0.160 1 241881973 missense variant C/A;G;T snv 0.96 0.010 1.000 1 2009 2009
dbSNP: rs2043449
rs2043449
CYP20A1
3 0.882 0.080 2 203251967 missense variant C/T snv 0.94 0.89 0.010 1.000 1 2019 2019
dbSNP: rs9915936
rs9915936
AXIN2
5 0.827 0.120 17 65537671 synonymous variant T/C snv 0.90 0.90 0.010 1.000 1 2017 2017
dbSNP: rs1046175
rs1046175
PAOX
4 0.851 0.080 10 133391446 stop gained C/A;G;T snv 1.2E-05; 0.88 0.010 1.000 1 2019 2019
dbSNP: rs2230229
rs2230229
TNFRSF10A
8 0.807 0.120 8 23191779 missense variant C/T snv 0.88 0.86 0.010 1.000 1 2013 2013
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 1.000 1 2005 2005
dbSNP: rs1625895
rs1625895
TP53
13 0.752 0.200 17 7674797 non coding transcript exon variant T/A;C;G snv 9.1E-06; 0.86; 4.5E-06 0.020 1.000 2 2007 2007
dbSNP: rs1047972
rs1047972
AURKA
19 0.716 0.240 20 56386407 missense variant T/C snv 0.85 0.84 0.020 0.500 2 2007 2015
dbSNP: rs1043994
rs1043994
NOTCH3
7 0.827 0.120 19 15192033 synonymous variant T/A;C snv 4.0E-06; 0.85 0.010 1.000 1 2019 2019
dbSNP: rs2229959
rs2229959
CHRNA4
3 0.882 0.080 20 63350202 synonymous variant C/A;T snv 0.84; 1.3E-05 0.010 1.000 1 2020 2020
dbSNP: rs738792
rs738792
MMP11
6 0.827 0.240 22 23779191 missense variant C/T snv 0.84 0.80 0.010 < 0.001 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 2017 2017
dbSNP: rs3206824
rs3206824
DKK3
6 0.827 0.160 11 11964514 missense variant T/C snv 0.78 0.78 0.020 1.000 2 2015 2017
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 2014 2014
dbSNP: rs7969931
rs7969931
LRMP
5 0.851 0.080 12 25089661 missense variant C/A;G snv 1.6E-05; 0.75 0.010 1.000 1 2006 2006
dbSNP: rs1883832
rs1883832
CD40
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.010 1.000 1 2015 2015
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 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 1.000 10 2014 2018
dbSNP: rs4673
rs4673
CYBA
32 0.653 0.600 16 88646828 missense variant A/G;T snv 0.70 0.010 1.000 1 2017 2017
dbSNP: rs1948
rs1948
CHRNB4
5 0.827 0.160 15 78625057 synonymous variant A/G;T snv 0.69 0.010 1.000 1 2018 2018
dbSNP: rs228729
rs228729
PER3
5 0.827 0.120 1 7785635 intron variant T/C snv 0.69 0.69 0.010 1.000 1 2014 2014
dbSNP: rs1042711
rs1042711
ADRB2
5 0.827 0.120 5 148826785 5 prime UTR variant C/A;G;T snv 4.2E-06; 0.68 0.010 1.000 1 2019 2019
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.100 0.921 38 2003 2019
dbSNP: rs1061170
rs1061170
CFH
72 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.010 1.000 1 2012 2012
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.100 0.850 20 2000 2018