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: rs10757257
rs10757257
3 0.882 0.080 9 21806565 intron variant G/A snv 0.34 0.010 1.000 1 2011 2011
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs121913227
rs121913227
31 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.010 1.000 1 2015 2015
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2015 2015
dbSNP: rs267599211
rs267599211
3 0.882 0.080 2 218584683 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs885479
rs885479
16 0.732 0.280 16 89919746 missense variant G/A snv 0.15 8.3E-02 0.010 1.000 1 2013 2013