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: rs3789243
rs3789243
ABCB1
14 0.776 0.120 7 87591570 intron variant A/G snv 0.50 0.020 0.500 2 2009 2013
dbSNP: rs11568591
rs11568591
ABCC3
2 0.925 0.080 17 50683692 missense variant G/A snv 3.7E-02 3.9E-02 0.010 1.000 1 2008 2008
dbSNP: rs4988453
rs4988453
ACAA1 ; MYD88
4 0.851 0.200 3 38137763 upstream gene variant C/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1367801477
rs1367801477
ACD ; CARMIL2
2 0.925 0.080 16 67657673 missense variant T/C snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs149418249
rs149418249
ACD ; CARMIL2
2 0.925 0.080 16 67657798 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs1800682
rs1800682
ACTA2 ; FAS
32 0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54 0.010 1.000 1 2016 2016
dbSNP: rs2234767
rs2234767
ACTA2 ; FAS
30 0.649 0.280 10 88989499 intron variant G/A;T snv 0.15 0.010 1.000 1 2016 2016
dbSNP: rs4963
rs4963
ADD1
6 0.827 0.120 4 2915035 missense variant C/G;T snv 0.20 0.18 0.010 1.000 1 2015 2015
dbSNP: rs1229984
rs1229984
ADH1B
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.020 1.000 2 2006 2016
dbSNP: rs266729
rs266729
ADIPOQ
37 0.637 0.560 3 186841685 upstream gene variant C/A;G;T snv 0.040 0.750 4 2008 2017
dbSNP: rs822395
rs822395
ADIPOQ
10 0.776 0.240 3 186849018 intron variant C/A;G snv 0.010 1.000 1 2013 2013
dbSNP: rs822396
rs822396
ADIPOQ
16 0.732 0.400 3 186849088 intron variant G/A snv 0.81 0.010 1.000 1 2013 2013
dbSNP: rs2241766
rs2241766
ADIPOQ ; ADIPOQ-AS1
48 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 0.040 1.000 4 2013 2015
dbSNP: rs1501299
rs1501299
ADIPOQ ; ADIPOQ-AS1
52 0.597 0.720 3 186853334 intron variant G/C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1342387
rs1342387
ADIPOR1
12 0.776 0.120 1 202945228 intron variant T/C snv 0.53 0.020 1.000 2 2014 2015
dbSNP: rs12733285
rs12733285
ADIPOR1
12 0.776 0.120 1 202952912 intron variant C/T snv 0.26 0.010 1.000 1 2015 2015
dbSNP: rs7539542
rs7539542
ADIPOR1
9 0.807 0.200 1 202940846 3 prime UTR variant G/C snv 0.58 0.010 1.000 1 2015 2015
dbSNP: rs4994
rs4994
ADRB3
65 0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 0.010 1.000 1 2001 2001
dbSNP: rs2070600
rs2070600
AGER
82 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 0.010 1.000 1 2014 2014
dbSNP: rs754141936
rs754141936
AGER
2 0.925 0.080 6 32182641 missense variant G/C snv 4.1E-06 1.4E-05 0.010 1.000 1 2007 2007
dbSNP: rs900321363
rs900321363
AGER
2 0.925 0.080 6 32183616 synonymous variant C/T snv 2.1E-05 0.010 1.000 1 2007 2007
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 1.000 1 2020 2020
dbSNP: rs203462
rs203462
AKAP10
7 0.807 0.200 17 19909228 missense variant T/C snv 0.37 0.43 0.010 1.000 1 2009 2009
dbSNP: rs796096871
rs796096871
AKAP10
6 0.807 0.200 17 19909228 missense variant TG/CA mnv 0.010 1.000 1 2009 2009