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: rs80356726
rs80356726
12 0.763 0.120 1 11022352 splice acceptor variant G/A snv 4.0E-06 0.100 1.000 14 2011 2019
dbSNP: rs367543041
rs367543041
15 0.742 0.200 1 11022553 missense variant G/A;C snv 3.0E-05 0.090 1.000 9 2009 2016
dbSNP: rs80356733
rs80356733
7 0.790 0.200 1 11022451 missense variant G/T snv 0.070 1.000 7 2008 2019
dbSNP: rs80356730
rs80356730
7 0.807 0.120 1 11022418 missense variant A/G snv 8.0E-06 0.060 1.000 6 2013 2019
dbSNP: rs1395271150
rs1395271150
1 1.000 0.080 1 247423230 missense variant G/C;T snv 4.0E-06 0.040 1.000 4 2015 2019
dbSNP: rs1541160
rs1541160
3 0.882 0.080 1 170026661 intron variant C/A;T snv 0.830 1.000 4 2009 2014
dbSNP: rs80356715
rs80356715
6 0.807 0.120 1 11016874 missense variant C/G;T snv 8.0E-06; 2.2E-04 0.040 0.500 4 2008 2017
dbSNP: rs80356727
rs80356727
3 0.925 0.080 1 11022400 missense variant C/A snv 0.040 1.000 4 2013 2019
dbSNP: rs1302121603
rs1302121603
1 1.000 0.080 1 176149024 missense variant T/C snv 3.3E-05 7.0E-06 0.030 1.000 3 2003 2008
dbSNP: rs1032968973
rs1032968973
1 1.000 0.080 1 156842164 synonymous variant A/G snv 4.0E-06 1.4E-05 0.020 1.000 2 2016 2017
dbSNP: rs4884357
rs4884357
6 0.807 0.120 1 11022301 missense variant G/A;T snv 4.0E-06 0.020 1.000 2 2018 2018
dbSNP: rs765162614
rs765162614
1 1.000 0.080 1 18634498 missense variant G/C snv 4.0E-06 0.020 1.000 2 2011 2012
dbSNP: rs766196255
rs766196255
1 1.000 0.080 1 11022532 missense variant A/G snv 2.6E-05 1.4E-05 0.020 1.000 2 2012 2019
dbSNP: rs80356717
rs80356717
5 0.851 0.120 1 11018836 missense variant A/G snv 0.020 1.000 2 2015 2018
dbSNP: rs80356721
rs80356721
2 0.925 0.080 1 11022290 missense variant G/A;C;T snv 4.0E-06; 1.2E-05 0.020 1.000 2 2009 2012
dbSNP: rs1008459
rs1008459
1 1.000 0.080 1 175182047 intron variant T/C snv 0.25 0.700 1.000 1 2007 2007
dbSNP: rs1053983726
rs1053983726
1 1.000 0.080 1 28150741 missense variant C/G snv 0.010 1.000 1 2018 2018
dbSNP: rs12136973
rs12136973
3 1.000 0.080 1 175171183 intron variant T/C snv 0.22 0.700 1.000 1 2007 2007
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2017 2017
dbSNP: rs121908395
rs121908395
2 0.925 0.080 1 11022278 missense variant G/C;T snv 0.010 1.000 1 2010 2010
dbSNP: rs1485665730
rs1485665730
1 1.000 0.080 1 113981288 missense variant C/G snv 4.1E-06 0.010 1.000 1 2015 2015
dbSNP: rs1572931
rs1572931
2 0.925 0.080 1 205775090 splice region variant C/A;T snv 0.14 0.010 1.000 1 2014 2014
dbSNP: rs199505533
rs199505533
1 1.000 0.080 1 153543790 missense variant C/A;G snv 1.2E-04 0.010 1.000 1 2019 2019
dbSNP: rs202227574
rs202227574
1 1.000 0.080 1 44011717 synonymous variant C/T snv 4.0E-06 2.1E-05 0.010 1.000 1 2015 2015
dbSNP: rs2364403
rs2364403
1 1.000 0.080 1 155957961 intron variant G/A snv 0.25 0.700 1.000 1 2013 2013