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: rs121913529
rs121913529
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.730 1.000 3 2012 2019
dbSNP: rs104894230
rs104894230
73 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.720 1.000 2 2012 2019
dbSNP: rs104894228
rs104894228
48 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.710 1.000 1 2012 2012
dbSNP: rs121913535
rs121913535
14 0.742 0.320 12 25245348 missense variant C/A;G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs727503094
rs727503094
41 0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 0.010 1.000 1 2019 2019
dbSNP: rs104894229
rs104894229
73 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 0
dbSNP: rs104894360
rs104894360
14 0.724 0.560 12 25209904 missense variant T/A;C snv 0.700 0
dbSNP: rs11554290
rs11554290
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.700 0
dbSNP: rs121913233
rs121913233
37 0.627 0.520 11 533874 missense variant T/A;C;G snv 0.700 0