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: rs34997054
rs34997054
1 1.000 0.120 2 71511847 missense variant G/A snv 7.1E-03 4.1E-03 0.700 0
dbSNP: rs28936415
rs28936415
22 0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03 0.700 0
dbSNP: rs1800553
rs1800553
17 0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03 0.010 1.000 1 2007 2007
dbSNP: rs142336618
rs142336618
5 0.827 0.120 3 49723648 missense variant C/G snv 4.5E-06; 7.0E-04 5.3E-04 0.700 1.000 7 2013 2017
dbSNP: rs28933693
rs28933693
3 0.882 0.200 17 50167653 missense variant C/T snv 4.6E-04 4.5E-04 0.010 1.000 1 2005 2005
dbSNP: rs549794342
rs549794342
NEB ; RIF1
4 0.925 0.120 2 151501423 stop gained G/A snv 2.7E-04 3.0E-04 0.700 0
dbSNP: rs200198778
rs200198778
5 0.827 0.160 14 77278764 missense variant T/C snv 5.6E-05 9.8E-05 0.700 0
dbSNP: rs397517497
rs397517497
TTN
2 1.000 0.120 2 178790707 splice donor variant C/T snv 4.8E-05 5.6E-05 0.700 0
dbSNP: rs376510500
rs376510500
1 1.000 0.120 20 38156054 missense variant G/A snv 2.4E-05 4.9E-05 0.010 1.000 1 2005 2005
dbSNP: rs368970223
rs368970223
3 0.882 0.160 11 22255403 stop gained C/T snv 1.6E-05 4.2E-05 0.700 1.000 1 2015 2015
dbSNP: rs781565158
rs781565158
22 0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05 0.700 0
dbSNP: rs121908110
rs121908110
4 0.882 0.160 19 46756837 missense variant A/G snv 1.2E-04 2.1E-05 0.700 0
dbSNP: rs760768093
rs760768093
7 0.882 0.160 2 178533255 frameshift variant C/- delins 2.4E-05 1.4E-05 0.700 0
dbSNP: rs769561386
rs769561386
1 1.000 0.120 1 156138575 missense variant G/A snv 2.0E-05 1.4E-05 0.700 0
dbSNP: rs1457591395
rs1457591395
1 1.000 0.120 8 86427804 missense variant G/A snv 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs369758958
rs369758958
1 1.000 0.120 1 228316753 missense variant C/T snv 3.3E-05 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs142908436
rs142908436
4 0.851 0.120 3 49722057 missense variant G/A;T snv 1.0E-04; 1.2E-05 0.700 1.000 6 2015 2017
dbSNP: rs1565930588
rs1565930588
19 0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del 0.700 1.000 3 2016 2018
dbSNP: rs116840805
rs116840805
6 0.827 0.160 3 8745725 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs121908457
rs121908457
13 0.882 0.120 5 137870815 missense variant C/T snv 0.010 1.000 1 2006 2006
dbSNP: rs121908458
rs121908458
4 0.882 0.120 5 137870830 missense variant C/G;T snv 3.6E-05 0.010 1.000 1 2006 2006
dbSNP: rs121909518
rs121909518
3 0.882 0.120 7 128858475 stop gained G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs199474724
rs199474724
4 0.851 0.120 1 156134839 missense variant G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs367543077
rs367543077
3 0.882 0.120 1 235450286 stop gained G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs548397345
rs548397345
2 0.925 0.120 18 2724901 missense variant G/A;C;T snv 4.9E-06; 4.9E-06; 4.4E-05 0.010 1.000 1 2015 2015