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: rs80359527
rs80359527
3 0.925 0.200 13 32340035 stop gained -/A delins 0.700 1.000 9 2001 2012
dbSNP: rs80359773
rs80359773
4 0.882 0.280 13 32398184 frameshift variant -/A delins 0.700 1.000 9 2002 2014
dbSNP: rs80359328
rs80359328
4 0.882 0.240 13 32336684 frameshift variant -/A delins 0.700 1.000 8 2002 2016
dbSNP: rs398122789
rs398122789
3 0.925 0.200 13 32339318 stop gained -/A delins 0.700 1.000 7 2007 2016
dbSNP: rs398122636
rs398122636
2 0.925 0.200 17 43094018 frameshift variant -/A delins 0.700 1.000 5 2002 2017
dbSNP: rs1555574739
rs1555574739
2 0.925 0.200 17 43047682 frameshift variant -/A delins 0.700 1.000 4 2001 2015
dbSNP: rs397507826
rs397507826
3 0.925 0.200 13 32340432 frameshift variant -/A delins 0.700 1.000 4 2008 2014
dbSNP: rs730881939
rs730881939
5 0.851 0.200 17 58695008 stop gained -/A delins 0.700 1.000 4 2010 2016
dbSNP: rs80357687
rs80357687
3 0.925 0.200 17 43091771 frameshift variant -/A delins 0.700 1.000 4 1998 2013
dbSNP: rs80359335
rs80359335
3 0.925 0.200 13 32336936 frameshift variant -/A delins 7.0E-06 0.700 1.000 4 2000 2014
dbSNP: rs1566249353
rs1566249353
1 1.000 0.200 13 32371055 frameshift variant -/A delins 0.700 1.000 3 2001 2018
dbSNP: rs397507683
rs397507683
3 0.925 0.200 13 32338103 frameshift variant -/A delins 0.700 1.000 3 2002 2018
dbSNP: rs80357785
rs80357785
2 0.925 0.200 17 43092179 frameshift variant -/A delins 0.700 1.000 3 2012 2018
dbSNP: rs80359438
rs80359438
3 0.925 0.200 13 32338630 frameshift variant -/A delins 0.700 1.000 2 2004 2017
dbSNP: rs80359676
rs80359676
3 0.925 0.200 13 32357842 frameshift variant -/A delins 0.700 1.000 2 2011 2015
dbSNP: rs1566237861
rs1566237861
1 1.000 0.200 13 32346887 frameshift variant -/A delins 0.700 1.000 1 2015 2015
dbSNP: rs276174819
rs276174819
3 0.925 0.200 13 32336524 frameshift variant -/A delins 0.700 1.000 1 2011 2011
dbSNP: rs397507286
rs397507286
3 0.925 0.200 13 32336831 frameshift variant -/A delins 7.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs397507334
rs397507334
3 0.925 0.200 13 32338824 frameshift variant -/A delins 4.0E-06 0.700 1.000 1 2011 2011
dbSNP: rs587781487
rs587781487
3 0.925 0.200 17 43099809 frameshift variant -/A delins 0.700 1.000 1 2016 2016
dbSNP: rs587782392
rs587782392
3 0.925 0.200 17 43071114 frameshift variant -/A delins 0.700 1.000 1 2011 2011
dbSNP: rs80359656
rs80359656
3 0.925 0.200 13 32356516 frameshift variant -/A delins 0.700 1.000 1 2011 2011
dbSNP: rs863224510
rs863224510
3 0.925 0.200 17 43093487 frameshift variant -/A delins 0.700 1.000 1 2012 2012
dbSNP: rs886040079
rs886040079
2 0.925 0.200 17 43092669 frameshift variant -/A delins 0.700 1.000 1 2016 2016
dbSNP: rs886040713
rs886040713
2 0.925 0.200 13 32356508 frameshift variant -/A delins 0.700 1.000 1 2011 2011