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: rs1570360
rs1570360
38 0.641 0.680 6 43770093 upstream gene variant A/G snv 0.76 0.010 1.000 1 2006 2006
dbSNP: rs16944
rs16944
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 1.000 1 2016 2016
dbSNP: rs1800872
rs1800872
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 1.000 1 2017 2017
dbSNP: rs1800897
rs1800897
2 0.925 0.240 10 100809115 synonymous variant C/T snv 7.4E-02 0.13 0.010 1.000 1 2015 2015
dbSNP: rs1927907
rs1927907
7 0.790 0.320 9 117710486 intron variant C/T snv 0.18 0.010 1.000 1 2017 2017
dbSNP: rs1927914
rs1927914
14 0.732 0.520 9 117702447 upstream gene variant G/A snv 0.52 0.010 1.000 1 2017 2017
dbSNP: rs200154785
rs200154785
APP
2 0.925 0.240 21 25997362 missense variant T/A snv 0.010 1.000 1 2002 2002
dbSNP: rs2010963
rs2010963
82 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 0.010 1.000 1 2006 2006
dbSNP: rs2227306
rs2227306
21 0.677 0.680 4 73741338 intron variant C/T snv 0.31 0.010 1.000 1 2016 2016
dbSNP: rs2228044
rs2228044
5 0.882 0.240 5 55968325 missense variant C/G snv 0.13 0.21 0.010 < 0.001 1 2013 2013
dbSNP: rs2228145
rs2228145
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.010 < 0.001 1 2013 2013
dbSNP: rs2275913
rs2275913
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.010 1.000 1 2016 2016
dbSNP: rs235326
rs235326
2 0.925 0.200 21 44891898 synonymous variant A/C;G snv 0.68 0.010 1.000 1 2011 2011
dbSNP: rs2430561
rs2430561
50 0.590 0.760 12 68158742 intron variant T/A snv 0.36 0.010 1.000 1 2014 2014
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2008 2008
dbSNP: rs28940580
rs28940580
17 0.742 0.560 16 3243447 missense variant C/A;G;T snv 1.0E-04; 8.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs376971794
rs376971794
TFG
2 0.925 0.160 3 100728760 missense variant G/A snv 6.4E-05 3.5E-05 0.010 1.000 1 2016 2016
dbSNP: rs3819025
rs3819025
11 0.752 0.480 6 52186476 intron variant G/A snv 0.13 8.5E-02 0.010 1.000 1 2016 2016
dbSNP: rs483352923
rs483352923
3 0.882 0.160 5 138441386 missense variant T/A snv 0.010 1.000 1 2014 2014
dbSNP: rs483352925
rs483352925
2 0.925 0.160 5 138444447 missense variant T/A snv 0.010 1.000 1 2014 2014
dbSNP: rs4986791
rs4986791
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 1.000 1 2010 2010
dbSNP: rs5743708
rs5743708
98 0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02 0.010 1.000 1 2010 2010
dbSNP: rs662
rs662
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 1.000 1 2010 2010
dbSNP: rs757334523
rs757334523
1 1.000 0.160 19 10829132 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs762630964
rs762630964
1 1.000 0.160 2 32145007 missense variant G/A snv 4.0E-06 0.010 1.000 1 2008 2008