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: rs104894230
rs104894230
73 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs121913529
rs121913529
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1482518887
rs1482518887
8 0.790 0.040 21 34887018 missense variant C/T snv 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs727503094
rs727503094
41 0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 0.010 1.000 1 2014 2014
dbSNP: rs778036161
rs778036161
9 0.776 0.080 8 92017363 missense variant T/C snv 8.0E-06 0.010 1.000 1 2014 2014