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: rs121913530
rs121913530
63 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.010 1.000 1 2007 2007
dbSNP: rs367634266
rs367634266
ELN
1 1.000 0.080 7 74028222 missense variant G/A;T snv 4.1E-06; 4.6E-05 1.2E-04 0.010 1.000 1 2015 2015
dbSNP: rs754945616
rs754945616
3 0.882 0.120 5 87268639 missense variant G/T snv 4.2E-06 0.010 1.000 1 2017 2017
dbSNP: rs770859592
rs770859592
1 1.000 0.080 9 21974599 missense variant C/T snv 1.6E-05 1.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs773459232
rs773459232
1 1.000 0.080 9 21994286 missense variant C/T snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs774248606
rs774248606
1 1.000 0.080 5 87268482 missense variant G/A snv 6.3E-06 0.010 1.000 1 2013 2013
dbSNP: rs730880460
rs730880460
3 0.882 0.120 11 533877 missense variant C/A;T snv 0.020 1.000 2 2015 2017
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
dbSNP: rs121917756
rs121917756
2 0.925 0.120 11 533869 missense variant C/T snv 0.710 1.000 1 2007 2007
dbSNP: rs727503094
rs727503094
41 0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 0.750 1.000 6 2006 2019
dbSNP: rs121917759
rs121917759
8 0.790 0.480 11 533466 missense variant G/A snv 0.800 1.000 9 2005 2014
dbSNP: rs104894231
rs104894231
9 0.776 0.360 11 533467 missense variant C/G;T snv 0.800 1.000 7 2005 2010
dbSNP: rs121917758
rs121917758
4 0.851 0.160 11 533883 missense variant G/A snv 0.810 1.000 15 2005 2016
dbSNP: rs104894227
rs104894227
1 1.000 0.080 11 533553 missense variant T/C snv 0.810 1.000 11 2005 2018
dbSNP: rs104894226
rs104894226
29 0.658 0.560 11 534285 missense variant C/A;G;T snv 0.810 1.000 10 2005 2017
dbSNP: rs121917757
rs121917757
4 0.851 0.200 11 534259 stop gained G/A;T snv 1.2E-05 0.820 1.000 2 2007 2015
dbSNP: rs104894228
rs104894228
48 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.830 1.000 16 2005 2017
dbSNP: rs104894230
rs104894230
73 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.840 1.000 23 1990 2019
dbSNP: rs104894229
rs104894229
73 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.900 1.000 31 2005 2018