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: rs104895358
rs104895358
MVK
2 12 109595148 missense variant G/A snv 1.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs1057518011
rs1057518011
4 1 1535766 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs1060504185
rs1060504185
1 9 21971116 missense variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs1156401234
rs1156401234
1 12 32740421 missense variant G/A snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs121912703
rs121912703
ACE
2 17 63496977 missense variant C/T snv 3.7E-05 4.9E-05 0.010 1.000 1 2006 2006
dbSNP: rs12765063
rs12765063
2 10 35127641 intron variant G/A snv 0.14 0.010 1.000 1 2018 2018
dbSNP: rs1334791875
rs1334791875
APP
1 21 25982369 missense variant G/A snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1365502141
rs1365502141
APP
1 21 26000017 missense variant G/A snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs150450891
rs150450891
FTO
1 16 53826341 missense variant G/A snv 4.6E-04 5.7E-04 0.010 1.000 1 2014 2014
dbSNP: rs202064075
rs202064075
1 1 16048352 missense variant G/A snv 1.5E-04 7.7E-05 0.010 1.000 1 2014 2014
dbSNP: rs2161961
rs2161961
3 18 11774501 intron variant A/G snv 0.31 0.010 1.000 1 2008 2008
dbSNP: rs402691
rs402691
2 19 53888383 intron variant T/C snv 0.39 0.010 1.000 1 2007 2007
dbSNP: rs539815495
rs539815495
1 6 161973365 missense variant A/G snv 1.1E-04 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs566794487
rs566794487
1 12 106997986 missense variant A/C snv 3.6E-05 0.010 1.000 1 2017 2017
dbSNP: rs773857
rs773857
1 19 16908042 intron variant C/T snv 0.56 0.010 1.000 1 2012 2012
dbSNP: rs914655
rs914655
1 9 16208133 intron variant G/T snv 1.6E-02 0.010 1.000 1 2014 2014
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2002 2008
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.040 1.000 4 2013 2019
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.040 1.000 4 2013 2019
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2007 2007
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.040 1.000 4 2006 2014
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2010 2010
dbSNP: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2017 2017
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2015 2015
dbSNP: rs1801131
rs1801131
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2017 2017