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: rs371828253
rs371828253
1 7 102273431 missense variant C/G snv 2.4E-05 4.2E-05 0.010 1.000 1 2009 2009
dbSNP: rs756847384
rs756847384
1 11 104944794 missense variant G/C snv 3.2E-05 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs148634289
rs148634289
6 0.827 0.200 11 112088925 synonymous variant C/T snv 1.6E-05 2.1E-05 0.010 1.000 1 2014 2014
dbSNP: rs2736098
rs2736098
48 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 0.010 1.000 1 2015 2015
dbSNP: rs121913459
rs121913459
25 0.672 0.160 9 130872896 missense variant C/T snv 0.010 < 0.001 1 2019 2019
dbSNP: rs1312268347
rs1312268347
4 0.925 0.120 9 133734172 start lost A/G snv 5.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 1.000 11 2008 2019
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.800 1.000 15 2002 2019
dbSNP: rs121913348
rs121913348
20 0.763 0.480 7 140781617 missense variant C/A;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs755235380
rs755235380
3 1.000 0.080 1 161314406 start lost A/G snv 4.0E-06 1.4E-05 0.700 1.000 7 2000 2013
dbSNP: rs587776652
rs587776652
4 0.882 0.200 1 161314408 start lost G/A snv 0.700 1.000 2 2000 2012
dbSNP: rs201286421
rs201286421
5 0.882 0.080 1 161323636 stop gained C/T snv 8.0E-06 2.1E-05 0.700 1.000 5 2008 2014
dbSNP: rs786202200
rs786202200
3 1.000 0.080 1 161328395 splice acceptor variant G/A;T snv 7.0E-06 0.700 1.000 2 2009 2014
dbSNP: rs587778661
rs587778661
4 0.925 0.080 1 161328466 missense variant C/T snv 7.0E-06 0.700 1.000 4 2009 2016
dbSNP: rs1553264218
rs1553264218
2 1.000 0.080 1 161340629 frameshift variant G/- del 0.700 0
dbSNP: rs764575966
rs764575966
8 0.882 0.080 1 161356832 stop gained C/T snv 3.6E-05 7.0E-06 0.700 1.000 7 2007 2016
dbSNP: rs1558182956
rs1558182956
2 1.000 0.080 1 161356840 splice donor variant G/- delins 0.700 0
dbSNP: rs587776653
rs587776653
7 0.827 0.160 1 161356841 splice donor variant G/A;C;T snv 8.0E-06 0.700 1.000 6 2003 2014
dbSNP: rs1553176976
rs1553176976
3 0.925 0.080 1 17018936 frameshift variant -/AGCT delins 0.700 0
dbSNP: rs1553176979
rs1553176979
3 0.925 0.080 1 17018938 frameshift variant -/C ins 0.700 0
dbSNP: rs1557738304
rs1557738304
3 0.925 0.080 1 17018943 frameshift variant -/C delins 0.700 0
dbSNP: rs74315368
rs74315368
5 0.882 0.080 1 17022648 missense variant C/T snv 1.2E-05 1.4E-05 0.700 1.000 6 2002 2015
dbSNP: rs786203251
rs786203251
5 0.882 0.080 1 17022649 missense variant G/A;T snv 0.700 1.000 10 1992 2013
dbSNP: rs1060503764
rs1060503764
4 0.925 0.080 1 17022655 frameshift variant -/A delins 0.700 0
dbSNP: rs587782604
rs587782604
7 0.827 0.120 1 17022684 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.700 1.000 16 2003 2016