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: rs137852976
rs137852976
1 1.000 0.040 14 95096172 missense variant A/C snv 0.800 1.000 1 2009 2009
dbSNP: rs886037672
rs886037672
3 1.000 0.040 14 95116680 stop gained G/A snv 0.700 1.000 4 2013 2016
dbSNP: rs886037712
rs886037712
2 1.000 0.040 14 95096608 frameshift variant TCAG/- delins 0.700 1.000 4 2010 2015
dbSNP: rs137852979
rs137852979
1 1.000 0.040 14 95116575 stop gained G/A snv 0.700 1.000 3 2009 2015
dbSNP: rs754081635
rs754081635
2 1.000 0.040 14 95113166 stop gained G/A;C snv 4.0E-06 0.700 1.000 3 2009 2011
dbSNP: rs886037670
rs886037670
1 1.000 0.040 14 95124195 splice donor variant C/A;T snv 0.700 1.000 3 2009 2014
dbSNP: rs1060503640
rs1060503640
1 1.000 0.040 14 95108095 splice acceptor variant T/C snv 0.700 1.000 2 2009 2011
dbSNP: rs1131691192
rs1131691192
2 1.000 0.040 14 95105784 splice acceptor variant C/A snv 0.700 1.000 2 2009 2011
dbSNP: rs1555370248
rs1555370248
1 1.000 0.040 14 95106040 splice donor variant C/T snv 0.700 1.000 2 2009 2011
dbSNP: rs1566790572
rs1566790572
1 1.000 0.040 14 95116696 splice acceptor variant C/T snv 0.700 1.000 2 2009 2011
dbSNP: rs1566803555
rs1566803555
1 1.000 0.040 14 95124669 splice acceptor variant C/G snv 0.700 1.000 2 2009 2011
dbSNP: rs754818927
rs754818927
2 1.000 0.040 14 95115704 stop gained G/A;C snv 4.0E-06; 4.0E-06 0.700 1.000 2 2015 2017
dbSNP: rs765059994
rs765059994
2 1.000 0.040 14 95099779 splice donor variant C/A;G snv 0.700 1.000 2 2009 2011
dbSNP: rs886037674
rs886037674
1 1.000 0.040 14 95116520 frameshift variant AT/- del 0.700 1.000 2 2009 2015
dbSNP: rs886037704
rs886037704
3 0.925 0.080 14 95103856 stop gained G/T snv 0.700 1.000 2 2009 2015
dbSNP: rs886037709
rs886037709
1 1.000 0.040 14 95103618 frameshift variant -/G delins 0.700 1.000 2 2011 2015
dbSNP: rs1060503605
rs1060503605
1 1.000 0.040 14 95105764 stop gained G/A snv 4.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs1060503625
rs1060503625
3 0.882 0.080 14 95091289 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs875989780
rs875989780
2 0.925 0.080 14 95094149 stop gained G/C;T snv 0.700 1.000 1 2014 2014
dbSNP: rs878855246
rs878855246
2 1.000 0.040 14 95113106 stop gained G/A snv 0.700 1.000 1 2014 2014
dbSNP: rs886037694
rs886037694
1 1.000 0.040 14 95106159 frameshift variant GTG/TT delins 0.700 1.000 1 2015 2015
dbSNP: rs1060503583
rs1060503583
1 1.000 0.040 14 95091236 stop gained G/A;C snv 4.0E-06 0.700 0
dbSNP: rs1060503584
rs1060503584
1 1.000 0.040 14 95111340 stop gained G/A snv 0.700 0
dbSNP: rs1060503596
rs1060503596
1 1.000 0.040 14 95107763 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1060503617
rs1060503617
1 1.000 0.040 14 95104047 stop gained C/A snv 0.700 0