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: rs13266634
rs13266634
23 0.724 0.480 8 117172544 missense variant C/A;T snv 0.29 1.000 0.973 75 2007 2019
dbSNP: rs3802177
rs3802177
5 1.000 0.080 8 117172786 3 prime UTR variant G/A snv 0.24 0.820 1.000 10 2008 2019
dbSNP: rs11558471
rs11558471
5 1.000 0.080 8 117173494 3 prime UTR variant A/G snv 0.25 0.720 1.000 3 2010 2012
dbSNP: rs149935213
rs149935213
1 1.000 0.080 8 117158059 intron variant TCT/- delins 2.2E-02 0.700 1.000 1 2019 2019
dbSNP: rs531347476
rs531347476
1 1.000 0.080 8 117012076 intron variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs6997279
rs6997279
3 0.882 0.160 8 116961613 intron variant G/T snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs200185429
rs200185429
1 1.000 0.080 8 117153084 stop gained C/T snv 2.4E-04 9.8E-05 0.020 1.000 2 2014 2019
dbSNP: rs16889462
rs16889462
1 1.000 0.080 8 117172545 missense variant G/A;C;T snv 1.5E-02; 2.0E-05; 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs2466293
rs2466293
2 1.000 0.080 8 117173699 3 prime UTR variant A/G snv 0.33 0.010 1.000 1 2010 2010
dbSNP: rs748727258
rs748727258
1 1.000 0.080 8 117157796 missense variant C/G;T snv 4.0E-06; 2.4E-05 0.010 1.000 1 2008 2008
dbSNP: rs770784511
rs770784511
1 1.000 0.080 8 117163508 synonymous variant C/T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs7817754
rs7817754
1 1.000 0.080 8 117142742 intron variant A/G snv 0.22 0.010 1.000 1 2016 2016