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: rs104894229
rs104894229
52 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.900 1.000 23 2005 2018
dbSNP: rs104894230
rs104894230
36 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.840 1.000 14 1990 2019
dbSNP: rs104894228
rs104894228
30 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.830 1.000 7 2005 2017
dbSNP: rs121917757
rs121917757
2 0.851 0.200 11 534259 stop gained G/A;T snv 1.2E-05 0.820 1.000 2 2007 2015
dbSNP: rs121917758
rs121917758
1 0.851 0.160 11 533883 missense variant G/A snv 0.810 1.000 7 2005 2016
dbSNP: rs104894227
rs104894227
1 1.000 0.080 11 533553 missense variant T/C snv 0.810 1.000 4 2005 2018
dbSNP: rs104894226
rs104894226
23 0.658 0.560 11 534285 missense variant C/A;G;T snv 0.810 1.000 2 2005 2017
dbSNP: rs121917759
rs121917759
7 0.790 0.480 11 533466 missense variant G/A snv 0.800 1.000 3 2005 2014
dbSNP: rs104894231
rs104894231
7 0.776 0.360 11 533467 missense variant C/G;T snv 0.800 1.000 0 2005 2010
dbSNP: rs727503094
rs727503094
1 0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 0.750 1.000 2 2006 2019
dbSNP: rs727503093
rs727503093
2 0.925 0.160 11 533881 missense variant C/T snv 0.700 1.000 10 1982 2018
dbSNP: rs35613389
rs35613389
1 1.000 0.080 11 533309 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs398122808
rs398122808
1 1.000 0.080 11 534210 coding sequence variant -/CTC delins 0.700 0
dbSNP: rs398122809
rs398122809
1 1.000 0.080 11 534212 inframe insertion -/TCT delins 0.700 0
dbSNP: rs587777239
rs587777239
1 1.000 0.080 11 533848 inframe insertion -/GTCCCGCATGGCGCTGTACTC delins 0.700 0
dbSNP: rs727504747
rs727504747
1 1.000 0.080 11 533880 missense variant GC/AG mnv 0.700 0