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: rs1049334
rs1049334
6 0.851 0.280 7 116560326 3 prime UTR variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1997623
rs1997623
9 0.807 0.160 7 116525306 missense variant A/C;G snv 0.86 0.010 1.000 1 2013 2013
dbSNP: rs3807987
rs3807987
17 0.732 0.280 7 116539780 intron variant G/A snv 7.6E-02 0.010 1.000 1 2013 2013
dbSNP: rs3807992
rs3807992
5 0.925 0.080 7 116557191 intron variant G/A snv 0.28 0.010 1.000 1 2013 2013
dbSNP: rs729949
rs729949
1 1.000 0.080 7 116554851 intron variant G/A snv 0.27 0.010 1.000 1 2014 2014