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: rs121909219
rs121909219
25 0.689 0.400 10 87957915 stop gained C/A;T snv 0.700 1.000 8 1997 2017
dbSNP: rs121909224
rs121909224
41 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 0.700 1.000 8 1997 2014
dbSNP: rs562015640
rs562015640
16 0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05 0.700 1.000 7 1998 2008
dbSNP: rs1114167629
rs1114167629
2 1.000 0.080 10 87933087 stop gained C/G;T snv 4.0E-06 0.700 1.000 4 1997 2006
dbSNP: rs587782603
rs587782603
2 1.000 0.040 10 87952118 stop gained G/A;T snv 0.700 1.000 4 2010 2013
dbSNP: rs786204929
rs786204929
12 0.752 0.200 10 87933144 stop gained G/A;T snv 0.700 1.000 4 1997 2015
dbSNP: rs121909232
rs121909232
9 0.776 0.160 10 87952258 stop gained C/A;G snv 4.0E-06 0.700 1.000 3 2001 2014
dbSNP: rs371387815
rs371387815
2 1.000 0.080 10 87960984 stop gained C/A;G;T snv 1.2E-05 0.700 1.000 3 2011 2013
dbSNP: rs786201816
rs786201816
2 1.000 0.080 10 87961100 stop gained C/G;T snv 4.0E-06 7.0E-06 0.700 1.000 3 2006 2017
dbSNP: rs786204864
rs786204864
2 1.000 0.080 10 87952136 stop gained C/T snv 0.700 1.000 3 2006 2015
dbSNP: rs786204910
rs786204910
2 1.000 0.080 10 87864518 stop gained C/G;T snv 4.0E-06 0.700 1.000 3 2011 2015
dbSNP: rs1060500122
rs1060500122
2 1.000 0.080 10 87933204 stop gained C/T snv 0.700 1.000 2 2011 2012
dbSNP: rs1114167667
rs1114167667
3 0.925 0.240 10 87961051 stop gained T/A;G snv 0.700 1.000 2 2003 2013
dbSNP: rs786202733
rs786202733
1 10 87952165 stop gained C/G snv 0.700 1.000 2 2007 2011
dbSNP: rs786202840
rs786202840
1 10 87960942 stop gained G/T snv 0.700 1.000 2 2008 2014
dbSNP: rs786202918
rs786202918
6 0.925 0.080 10 87957951 stop gained C/T snv 4.0E-06 0.700 1.000 2 1998 2006
dbSNP: rs786204934
rs786204934
1 10 87933207 stop gained G/T snv 0.700 1.000 2 2011 2015
dbSNP: rs1114167640
rs1114167640
8 0.790 0.160 10 87961067 stop gained TGACAAAGCAAATA/CGCTT delins 0.700 1.000 1 2011 2011
dbSNP: rs1114167672
rs1114167672
1 10 87894083 stop gained C/A snv 0.700 1.000 1 2014 2014
dbSNP: rs1554898053
rs1554898053
2 1.000 0.080 10 87933018 stop gained C/T snv 0.700 1.000 1 1998 1998
dbSNP: rs1554898097
rs1554898097
1 10 87933092 stop gained G/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs587782187
rs587782187
2 1.000 0.080 10 87864517 stop gained T/A;C;G snv 8.0E-06 0.700 1.000 1 2011 2011
dbSNP: rs587782607
rs587782607
2 1.000 0.080 10 87960914 stop gained G/A snv 0.700 1.000 1 2011 2011
dbSNP: rs1057519368
rs1057519368
4 0.882 0.320 10 87957958 stop gained T/A;C;G snv 4.0E-06 0.700 0
dbSNP: rs1114167628
rs1114167628
5 0.925 0.080 10 87961033 stop gained -/ATATCTAG delins 0.700 0