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: rs1400094618
rs1400094618
MOK
3 0.882 0.240 14 102229508 missense variant A/G snv 0.010 < 0.001 1 2012 2012
dbSNP: rs14259
rs14259
19 0.724 0.360 12 121915890 missense variant A/C;G snv 4.0E-06; 0.32 0.010 1.000 1 2011 2011
dbSNP: rs1531343
rs1531343
2 0.925 0.160 12 65781114 intron variant G/C;T snv 0.010 1.000 1 2013 2013
dbSNP: rs17300593
rs17300593
2 0.925 0.160 1 58637536 intergenic variant C/G snv 0.010 1.000 1 2015 2015
dbSNP: rs1800470
rs1800470
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 < 0.001 1 2001 2001
dbSNP: rs1800775
rs1800775
18 0.790 0.240 16 56961324 upstream gene variant C/A;G snv 0.51; 5.7E-06 0.010 1.000 1 2019 2019
dbSNP: rs1800783
rs1800783
7 0.827 0.280 7 150992309 intron variant A/C;G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs2059806
rs2059806
7 0.807 0.240 19 7166365 synonymous variant C/G;T snv 4.0E-06; 0.26 0.010 1.000 1 2015 2015
dbSNP: rs2069837
rs2069837
18 0.724 0.520 7 22728408 intron variant A/C;G snv 0.010 < 0.001 1 2019 2019
dbSNP: rs2075241
rs2075241
4 0.882 0.200 12 12138545 intron variant G/A;C snv 0.18 0.010 1.000 1 2011 2011
dbSNP: rs2082940
rs2082940
10 0.763 0.480 3 186856375 3 prime UTR variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs2229569
rs2229569
8 0.790 0.360 1 169704697 missense variant G/A;T snv 0.21; 3.2E-05 0.010 < 0.001 1 2003 2003
dbSNP: rs2259816
rs2259816
8 0.827 0.280 12 120997784 synonymous variant G/A;T snv 6.7E-06; 0.40 0.010 1.000 1 2012 2012
dbSNP: rs2295490
rs2295490
16 0.724 0.320 20 388261 missense variant A/G;T snv 0.18; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs3807337
rs3807337
1 1.000 0.120 7 134779071 intron variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs3865188
rs3865188
10 0.790 0.320 16 82617112 intergenic variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs3918188
rs3918188
10 0.776 0.280 7 151005693 intron variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs4366
rs4366
ACE
1 1.000 0.120 17 63498094 3 prime UTR variant CT/-;CTCT delins 0.010 1.000 1 2007 2007
dbSNP: rs4820043
rs4820043
1 1.000 0.120 22 31251108 intron variant A/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs491347
rs491347
2 0.925 0.200 11 68402220 intron variant G/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 < 0.001 1 2004 2004
dbSNP: rs5030718
rs5030718
8 0.827 0.200 9 117713548 stop gained G/A;T snv 3.1E-03; 8.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs55703767
rs55703767
3 0.925 0.160 2 227256385 missense variant G/A;T snv 4.0E-06; 0.17 0.010 1.000 1 2019 2019
dbSNP: rs56094641
rs56094641
FTO
4 0.925 0.160 16 53772541 intron variant A/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs5749286
rs5749286
1 1.000 0.120 22 31504373 intron variant C/A;T snv 0.700 1.000 1 2011 2011