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: rs12564445
rs12564445
TNNT2
5 0.851 0.040 1 201376359 intron variant G/A snv 0.27 0.010 < 0.001 1 2013 2013
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs12762303
rs12762303
ALOX5
4 0.851 0.080 10 45373723 upstream gene variant T/C snv 0.17 0.010 < 0.001 1 2008 2008
dbSNP: rs1282382243
rs1282382243
DLEU1 ; DLEU7 ; DLEU7-AS1
8 0.807 0.120 13 50843630 missense variant G/A snv 0.010 1.000 1 2001 2001
dbSNP: rs12953
rs12953
PECAM1
9 0.763 0.200 17 64356203 missense variant C/A;T snv 0.38 0.010 1.000 1 2003 2003
dbSNP: rs1298417395
rs1298417395
COP1
4 0.882 0.080 1 176206716 missense variant C/T snv 1.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs1314386070
rs1314386070
DECR1
9 0.827 0.240 8 90042766 missense variant T/C snv 1.4E-05 0.010 1.000 1 2009 2009
dbSNP: rs1333049
rs1333049
CDKN2B-AS1
60 0.614 0.520 9 22125504 intron variant G/C snv 0.41 0.010 1.000 1 2014 2014
dbSNP: rs13447720
rs13447720
MRE11
2 0.925 0.040 11 94432160 intron variant T/C snv 0.17 0.010 1.000 1 2019 2019
dbSNP: rs1346044
rs1346044
WRN
23 0.708 0.440 8 31167138 missense variant T/C snv 0.24 0.23 0.010 1.000 1 2000 2000
dbSNP: rs1378942
rs1378942
CSK
16 0.790 0.240 15 74785026 intron variant C/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs138227502
rs138227502
ADIPOQ ; ADIPOQ-AS1
2 0.925 0.040 3 186853221 missense variant C/T snv 1.8E-04 5.6E-04 0.010 1.000 1 2017 2017
dbSNP: rs1384889210
rs1384889210
APOA1 ; APOA1-AS
5 0.827 0.040 11 116836193 missense variant C/A snv 0.010 1.000 1 2015 2015
dbSNP: rs1403934301
rs1403934301
SHBG
3 0.882 0.120 17 7631317 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs140808909
rs140808909
APOE
5 0.851 0.120 19 44909080 missense variant G/A snv 2.0E-04 5.6E-05 0.010 1.000 1 1999 1999
dbSNP: rs1440763451
rs1440763451
PPARG
4 0.882 0.080 3 12416849 missense variant A/G snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1447295
rs1447295
CASC8
29 0.658 0.400 8 127472793 intron variant A/C;T snv 0.010 1.000 1 2008 2008
dbSNP: rs145204276
rs145204276
GAS5 ; ZBTB37 ; SNORD74 ; SNORD75 ; SNORD76 ; SNORD77 ; SNORA103
31 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs1490867890
rs1490867890
MCL1 ; LOC107985203
3 0.882 0.080 1 150579475 missense variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs1535045
rs1535045
CD40
12 0.742 0.360 20 46119460 intron variant C/A;G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs16147
rs16147
NPY ; LOC107986777
18 0.695 0.400 7 24283791 upstream gene variant T/C snv 0.48 0.010 1.000 1 2012 2012
dbSNP: rs16899974
rs16899974
AGXT2
5 0.827 0.120 5 34998772 missense variant C/A snv 0.24 0.19 0.010 1.000 1 2015 2015
dbSNP: rs16933090
rs16933090
SOX6
7 0.790 0.160 11 16434247 5 prime UTR variant C/T snv 0.12 0.010 1.000 1 2016 2016
dbSNP: rs17228212
rs17228212
SMAD3
8 0.807 0.160 15 67166301 intron variant T/C snv 0.21 0.010 < 0.001 1 2013 2013
dbSNP: rs17231520
rs17231520
CETP
9 0.851 0.240 16 56961915 upstream gene variant G/A snv 2.1E-02 0.010 1.000 1 2015 2015