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
5 0.724 0.480 8 117172544 missense variant C/A;T snv 0.29 1.000 0.973 13 2007 2019
dbSNP: rs3802177
rs3802177
3 1.000 0.080 8 117172786 3 prime UTR variant G/A snv 0.24 0.820 1.000 8 2008 2019
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