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: rs1052566
rs1052566
1 1.000 11 66337723 missense variant G/A snv 0.30 0.23 0.010 < 0.001 1 2013 2013
dbSNP: rs121913471
rs121913471
8 0.807 0.120 17 39724747 missense variant G/A;C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs16886448
rs16886448
3 0.882 0.080 5 56874986 intron variant C/G snv 6.6E-02 5.8E-02 0.010 1.000 1 2017 2017
dbSNP: rs3116068
rs3116068
2 1.000 11 66337522 3 prime UTR variant C/T snv 0.17 0.010 1.000 1 2013 2013
dbSNP: rs4593472
rs4593472
3 0.882 0.080 7 130982362 intron variant C/T snv 0.31 0.010 1.000 1 2017 2017
dbSNP: rs63750447
rs63750447
17 0.716 0.200 3 37025749 missense variant T/A snv 2.7E-03 7.5E-04 0.010 1.000 1 2019 2019
dbSNP: rs35054928
rs35054928
4 0.851 0.080 10 121580918 intron variant C/- delins 0.010 1.000 1 2017 2017