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: rs9277535
rs9277535
13 0.724 0.440 6 33087084 3 prime UTR variant A/G snv 0.25 0.010 1.000 1 2018 2018
dbSNP: rs11084377
rs11084377
1 1.000 0.120 19 54875434 intron variant A/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs3796283
rs3796283
LPP
4 0.851 0.200 3 188885163 3 prime UTR variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs11264793
rs11264793
1 1.000 0.120 1 157677736 3 prime UTR variant A/T snv 0.28 0.010 1.000 1 2020 2020
dbSNP: rs4073
rs4073
64 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 0.010 1.000 1 2011 2011
dbSNP: rs11264794
rs11264794
2 1.000 0.120 1 157677999 3 prime UTR variant C/A snv 0.63 0.020 1.000 2 2019 2020
dbSNP: rs11089788
rs11089788
5 0.851 0.120 22 36355056 intron variant C/A snv 0.46 0.010 1.000 1 2011 2011
dbSNP: rs12022418
rs12022418
1 1.000 0.120 1 192565977 intron variant C/A snv 0.64 0.010 1.000 1 2016 2016
dbSNP: rs1362970
rs1362970
1 1.000 0.120 12 95658750 3 prime UTR variant C/A snv 0.47 0.010 1.000 1 2019 2019
dbSNP: rs2523946
rs2523946
2 0.925 0.200 6 29974166 upstream gene variant C/A;G;T snv 0.800 1.000 2 2011 2015
dbSNP: rs4077515
rs4077515
11 0.763 0.360 9 136372044 missense variant C/A;T snv 4.0E-06; 0.41 0.710 1.000 2 2014 2017
dbSNP: rs2364480
rs2364480
2 0.925 0.120 12 6386109 synonymous variant C/A;T snv 0.77; 2.0E-05 0.010 1.000 1 2012 2012
dbSNP: rs3129269
rs3129269
1 1.000 0.120 6 33129837 downstream gene variant C/A;T snv 0.700 1.000 1 2014 2014
dbSNP: rs2910164
rs2910164
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.020 1.000 2 2014 2015
dbSNP: rs2195239
rs2195239
7 0.851 0.240 12 102462924 non coding transcript exon variant C/G snv 0.28 0.010 1.000 1 2018 2018
dbSNP: rs77370625
rs77370625
1 1.000 0.120 19 57328138 missense variant C/G snv 5.8E-03 2.8E-03 0.010 1.000 1 2015 2015
dbSNP: rs887280103
rs887280103
ACE
1 1.000 0.120 17 63477294 missense variant C/G snv 1.4E-05 0.010 1.000 1 2000 2000
dbSNP: rs9314614
rs9314614
2 1.000 0.120 8 6840209 intron variant C/G snv 0.61 0.700 1.000 1 2015 2015
dbSNP: rs1126616
rs1126616
8 0.827 0.280 4 87982701 synonymous variant C/G;T snv 0.32 0.26 0.010 1.000 1 2019 2019
dbSNP: rs1800471
rs1800471
48 0.597 0.840 19 41352971 missense variant C/G;T snv 5.6E-02 0.010 1.000 1 2008 2008
dbSNP: rs2378456
rs2378456
LPP
6 0.807 0.200 3 188885218 3 prime UTR variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs3204008
rs3204008
1 1.000 0.120 14 51968341 3 prime UTR variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs11264799
rs11264799
6 0.851 0.240 1 157700967 upstream gene variant C/T snv 0.28 0.720 1.000 3 2015 2020
dbSNP: rs9275596
rs9275596
7 0.827 0.280 6 32713854 upstream gene variant C/T snv 0.66 0.720 1.000 3 2014 2017
dbSNP: rs12537
rs12537
5 0.827 0.280 22 30027471 3 prime UTR variant C/T snv 0.40 0.800 1.000 2 2011 2015