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: rs10082248
rs10082248
1 1.000 0.080 1 209693771 intron variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs12086634
rs12086634
6 0.827 0.280 1 209706914 intron variant T/G snv 0.21 0.20 0.010 1.000 1 2006 2006
dbSNP: rs2298930
rs2298930
1 1.000 0.080 1 209722867 intron variant C/A;T snv 3.5E-02 0.010 1.000 1 2014 2014
dbSNP: rs3753519
rs3753519
2 0.925 0.200 1 209702170 intron variant T/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs45487298
rs45487298
3 0.882 0.120 1 209706871 intron variant -/A delins 0.010 1.000 1 2019 2019