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: rs6496589
rs6496589
PLIN1
1 1.000 0.080 15 89669998 missense variant G/C;T snv 0.93; 4.1E-06 0.010 1.000 1 2015 2015
dbSNP: rs1956549
rs1956549
C14orf39
1 1.000 0.080 14 60461483 intron variant G/A snv 0.87 0.82 0.010 1.000 1 2018 2018
dbSNP: rs136175
rs136175
APOL1
2 0.925 0.120 22 36265520 missense variant G/A;C;T snv 0.84; 4.0E-06 0.010 1.000 1 2012 2012
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: rs2275848
rs2275848
NINJ1
2 0.925 0.120 9 93125038 missense variant G/T snv 0.81 0.77 0.800 1.000 1 2013 2013
dbSNP: rs2239785
rs2239785
APOL1
5 0.827 0.240 22 36265284 missense variant G/A snv 0.79 0.68 0.010 1.000 1 2012 2012
dbSNP: rs695872
rs695872
ATXN2 ; ATXN2-AS
2 0.925 0.120 12 111599125 synonymous variant G/A snv 0.79 0.61 0.010 1.000 1 2009 2009
dbSNP: rs1981529
rs1981529
STEAP4
2 0.925 0.080 7 88284046 missense variant C/A;T snv 0.78 0.010 1.000 1 2011 2011
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.060 0.833 6 2004 2017
dbSNP: rs3745318
rs3745318
KLF2
2 1.000 0.080 19 16325451 missense variant T/C snv 0.75 0.82 0.010 < 0.001 1 2006 2006
dbSNP: rs2229113
rs2229113
IL10RA
10 0.763 0.360 11 117998955 missense variant A/G snv 0.74 0.74 0.010 1.000 1 2017 2017
dbSNP: rs1801253
rs1801253
ADRB1
34 0.683 0.440 10 114045297 missense variant G/C snv 0.74 0.69 0.030 0.667 3 2006 2018
dbSNP: rs689
rs689
INS ; INS-IGF2
9 0.776 0.280 11 2160994 splice region variant A/T snv 0.73 0.60 0.010 1.000 1 2015 2015
dbSNP: rs1799883
rs1799883
FABP2
36 0.658 0.440 4 119320747 missense variant T/A;C;G snv 0.73 0.100 0.846 13 1999 2015
dbSNP: rs3736544
rs3736544
CLOCK ; TMEM165
4 0.882 0.160 4 55443825 synonymous variant A/G snv 0.70 0.69 0.010 1.000 1 2016 2016
dbSNP: rs1127568
rs1127568
ADCY3
1 1.000 0.080 2 24823221 synonymous variant T/C;G snv 0.69; 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1042714
rs1042714
ADRB2
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.100 0.882 17 1997 2018
dbSNP: rs235326
rs235326
ITGB2
2 0.925 0.200 21 44891898 synonymous variant A/C;G snv 0.68 0.010 1.000 1 2008 2008
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2013 2013
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 2014 2014
dbSNP: rs4917
rs4917
AHSG
9 0.790 0.160 3 186619924 missense variant T/C snv 0.68 0.68 0.020 1.000 2 2005 2015
dbSNP: rs8192673
rs8192673
GRB14
2 0.925 0.120 2 164497202 intron variant C/A;T snv 4.0E-06; 0.67 0.010 1.000 1 2015 2015
dbSNP: rs1642785
rs1642785
TP53
6 0.807 0.200 17 7676483 5 prime UTR variant G/A;C;T snv 1.2E-05; 0.67; 2.8E-05 0.010 1.000 1 2019 2019
dbSNP: rs4918
rs4918
AHSG
12 0.763 0.400 3 186620593 missense variant G/A;C snv 0.67 0.020 1.000 2 2005 2016
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 1.000 2 2016 2019