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: rs11175593
rs11175593
3 0.882 0.160 12 40208138 non coding transcript exon variant C/T snv 2.8E-02 0.820 1.000 3 2008 2013
dbSNP: rs148319899
rs148319899
2 1.000 0.040 12 40346421 intron variant T/C snv 3.0E-02 0.700 1.000 1 2017 2017
dbSNP: rs17466626
rs17466626
14 0.724 0.240 12 40366829 non coding transcript exon variant A/G snv 1.7E-02 0.700 1.000 1 2015 2015
dbSNP: rs4768236
rs4768236
2 1.000 0.040 12 40362670 intron variant C/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs7313895
rs7313895
5 0.827 0.120 12 40350592 intron variant G/T snv 0.77 0.700 1.000 1 2016 2016
dbSNP: rs3761863
rs3761863
1 1.000 0.040 12 40364850 missense variant T/C snv 0.62 0.62 0.020 1.000 2 2013 2016
dbSNP: rs33995883
rs33995883
1 1.000 0.040 12 40346884 missense variant A/G;T snv 1.8E-02; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs34637584
rs34637584
78 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 0.010 1.000 1 2018 2018
dbSNP: rs7133914
rs7133914
7 0.790 0.120 12 40309109 missense variant G/A;T snv 8.5E-02; 1.6E-05 0.010 1.000 1 2018 2018
dbSNP: rs7308720
rs7308720
7 0.790 0.120 12 40263898 missense variant C/A;G snv 4.0E-06; 8.7E-02 0.010 1.000 1 2018 2018