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: rs104894729
rs104894729
5 0.827 0.080 19 55151892 missense variant C/A;G;T snv 0.710 1.000 11 2003 2013
dbSNP: rs727503260
rs727503260
4 0.851 0.080 14 23425403 missense variant C/G;T snv 0.700 1.000 10 2003 2015
dbSNP: rs397516153
rs397516153
2 0.925 0.040 14 23424935 missense variant G/A;T snv 0.700 1.000 2 2008 2017
dbSNP: rs727503499
rs727503499
1 1.000 0.040 19 55151893 missense variant G/A snv 0.700 1.000 2 2010 2011
dbSNP: rs727503503
rs727503503
5 0.827 0.120 19 55154070 missense variant C/T snv 0.700 1.000 2 2007 2009
dbSNP: rs1382734231
rs1382734231
1 1.000 0.040 7 128854578 missense variant C/A;T snv 7.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs1563005534
rs1563005534
1 1.000 0.040 7 128857244 missense variant A/G snv 0.700 1.000 1 2018 2018
dbSNP: rs369634007
rs369634007
10 0.882 0.080 2 112098688 missense variant A/G snv 1.6E-05 2.1E-05 0.700 1.000 1 2016 2016
dbSNP: rs727503244
rs727503244
1 1.000 0.040 14 23417573 missense variant A/G snv 4.4E-05 5.6E-05 0.700 1.000 1 2010 2010
dbSNP: rs727503504
rs727503504
6 0.807 0.080 19 55154071 missense variant G/A;C snv 0.700 1.000 1 2009 2009
dbSNP: rs727503513
rs727503513
2 0.925 0.080 1 201365292 missense variant G/A snv 0.700 1.000 1 1999 1999
dbSNP: rs1294950721
rs1294950721
27 0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06 0.700 0
dbSNP: rs1554401403
rs1554401403
1 1.000 0.040 7 128854577 missense variant C/T snv 0.700 0
dbSNP: rs727503269
rs727503269
3 0.882 0.040 14 23429329 missense variant T/C snv 0.700 0
dbSNP: rs730880231
rs730880231
1 1.000 0.040 19 55154057 missense variant C/G;T snv 4.0E-06 0.700 0
dbSNP: rs104894724
rs104894724
8 0.790 0.120 19 55154146 missense variant G/A;C snv 4.0E-06 0.020 1.000 2 2009 2016
dbSNP: rs121918312
rs121918312
11 0.776 0.160 10 119672373 missense variant C/A;T snv 0.020 1.000 2 2015 2018
dbSNP: rs1114167341
rs1114167341
4 0.882 0.040 11 111908966 missense variant T/C snv 0.010 1.000 1 2017 2017
dbSNP: rs1114167361
rs1114167361
6 0.827 0.160 7 128845022 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs1131692185
rs1131692185
3 0.882 0.040 7 128845012 missense variant GC/CT mnv 0.010 1.000 1 2018 2018
dbSNP: rs1204336259
rs1204336259
2 0.925 0.040 6 38723373 missense variant A/G snv 4.1E-06 0.010 1.000 1 2017 2017
dbSNP: rs141754300
rs141754300
2 0.925 0.040 1 201364349 missense variant C/A snv 8.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs199476408
rs199476408
4 0.851 0.040 10 68165803 stop gained C/G;T snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs200754249
rs200754249
4 0.851 0.080 1 201368212 missense variant G/A;T snv 4.5E-04; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs267607124
rs267607124
6 0.807 0.080 3 52451410 missense variant G/A;C;T snv 4.0E-05; 4.0E-06; 1.3E-04 0.010 1.000 1 2016 2016