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: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.030 1.000 3 2006 2018
dbSNP: rs6691840
rs6691840
5 0.827 0.120 1 36859876 missense variant A/C;G snv 0.27; 9.2E-05 0.020 0.500 2 2006 2013
dbSNP: rs1042114
rs1042114
6 0.807 0.120 1 28812463 missense variant G/C;T snv 0.91 0.010 1.000 1 2008 2008
dbSNP: rs1051740
rs1051740
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2013 2013
dbSNP: rs1057302
rs1057302
1 1.000 0.080 1 175157287 3 prime UTR variant A/G snv 0.38 0.700 1.000 1 2011 2011
dbSNP: rs10889635
rs10889635
1 1.000 0.080 1 66609892 intron variant G/A snv 0.65 0.010 1.000 1 2016 2016
dbSNP: rs10913569
rs10913569
1 1.000 0.080 1 178548873 non coding transcript exon variant A/G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs11583322
rs11583322
1 1.000 0.080 1 36356711 intron variant T/C snv 0.30 0.700 1.000 1 2013 2013
dbSNP: rs147247472
rs147247472
5 0.925 0.080 1 49441901 intron variant G/A snv 7.3E-04 0.710 1.000 1 2019 2019
dbSNP: rs17028719
rs17028719
1 1.000 0.080 1 5734948 intergenic variant A/G snv 4.8E-02 0.700 1.000 1 2011 2011
dbSNP: rs1890881
rs1890881
1 1.000 0.080 1 174207785 intron variant T/C snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs2094081
rs2094081
4 0.925 0.080 1 38927359 intron variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs2234918
rs2234918
5 0.827 0.200 1 28863085 synonymous variant C/T snv 0.59 0.50 0.010 1.000 1 2008 2008
dbSNP: rs2269655
rs2269655
1 1.000 0.080 1 175166468 intron variant C/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs2501432
rs2501432
16 0.716 0.480 1 23875430 missense variant T/C;G snv 0.62 0.010 1.000 1 2007 2007
dbSNP: rs324420
rs324420
48 0.637 0.440 1 46405089 missense variant C/A snv 0.24 0.26 0.010 1.000 1 2018 2018
dbSNP: rs35761398
rs35761398
19 0.701 0.520 1 23875429 missense variant TT/CC mnv 0.010 1.000 1 2007 2007
dbSNP: rs4478858
rs4478858
3 1.000 0.080 1 31411078 intron variant T/C snv 0.48 0.800 1.000 1 2013 2013
dbSNP: rs595961
rs595961
6 0.807 0.160 1 35902179 intron variant A/G snv 0.30 0.37 0.010 1.000 1 2015 2015
dbSNP: rs61776290
rs61776290
3 1.000 0.080 1 10634850 upstream gene variant C/T snv 8.7E-02 0.700 1.000 1 2014 2014
dbSNP: rs61826952
rs61826952
1 1.000 0.080 1 174668799 intron variant A/G snv 0.10 0.010 1.000 1 2019 2019
dbSNP: rs6425323
rs6425323
1 1.000 0.080 1 175155900 downstream gene variant C/T snv 0.39 0.700 1.000 1 2011 2011
dbSNP: rs6701037
rs6701037
3 1.000 0.080 1 175150943 downstream gene variant A/C;T snv 0.800 1.000 1 2011 2011
dbSNP: rs72737330
rs72737330
4 0.925 0.080 1 216600151 intron variant T/C snv 0.15 0.700 1.000 1 2017 2017
dbSNP: rs879761216
rs879761216
14 0.732 0.480 1 23875429 frameshift variant TT/C;T delins 0.010 1.000 1 2007 2007