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: rs1009977
rs1009977
2 1.000 0.040 14 55136284 intron variant T/G snv 0.48 0.010 1.000 1 2018 2018
dbSNP: rs1071646
rs1071646
1 1.000 0.040 15 63059641 splice region variant C/A snv 0.67 0.65 0.010 1.000 1 2015 2015
dbSNP: rs10880
rs10880
2 0.925 0.160 19 40622404 missense variant C/T snv 0.38 0.39 0.010 1.000 1 2015 2015
dbSNP: rs10889677
rs10889677
40 0.627 0.720 1 67259437 3 prime UTR variant C/A snv 0.27 0.010 1.000 1 2009 2009
dbSNP: rs111033559
rs111033559
4 0.925 0.040 6 118558946 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs11465817
rs11465817
4 0.882 0.120 1 67255414 intron variant C/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs11570113
rs11570113
1 1.000 0.040 11 47333605 missense variant G/A;T snv 1.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs11614913
rs11614913
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.010 1.000 1 2010 2010
dbSNP: rs1175271580
rs1175271580
1 1.000 0.040 7 123662780 stop gained G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs118204016
rs118204016
4 0.925 0.240 17 7223984 missense variant G/A snv 2.4E-05 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs121434420
rs121434420
5 0.851 0.120 12 32879021 stop gained G/A snv 4.0E-06 4.9E-05 0.010 1.000 1 2012 2012
dbSNP: rs121909298
rs121909298
4 0.925 0.040 5 156595000 missense variant T/G snv 2.0E-04 1.3E-04 0.010 1.000 1 2014 2014
dbSNP: rs121913002
rs121913002
DES
7 0.851 0.160 2 219425727 missense variant C/A;G;T snv 6.5E-05; 5.6E-04 0.010 1.000 1 1999 1999
dbSNP: rs121917776
rs121917776
VCL
5 0.882 0.040 10 74112086 missense variant C/T snv 9.9E-05 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1241664568
rs1241664568
1 1.000 0.040 11 64320661 missense variant A/G snv 1.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs1266360671
rs1266360671
3 0.925 0.080 1 237270518 missense variant T/C snv 4.7E-06 0.010 1.000 1 2015 2015
dbSNP: rs1284689627
rs1284689627
1 1.000 0.040 2 178550125 missense variant C/T snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs12921862
rs12921862
10 0.763 0.200 16 331927 intron variant C/A snv 0.18 0.010 1.000 1 2019 2019
dbSNP: rs1294156190
rs1294156190
1 1.000 0.040 22 19880680 missense variant C/T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1298494952
rs1298494952
TTN
2 1.000 0.040 2 178789994 missense variant T/C snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1346512134
rs1346512134
1 1.000 0.040 15 63042909 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs1368507241
rs1368507241
DES
2 1.000 0.040 2 219420613 missense variant C/T snv 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs137852764
rs137852764
1 1.000 0.040 11 19188211 missense variant T/C snv 2.0E-05 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs137854618
rs137854618
15 0.742 0.120 3 38566426 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1384750266
rs1384750266
1 1.000 0.040 19 55154199 missense variant T/C snv 4.0E-06 0.010 1.000 1 2015 2015