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: rs80338682
rs80338682
3 0.925 0.080 17 17216395 frameshift variant G/-;GG delins 0.700 1.000 7 2002 2015
dbSNP: rs1064793128
rs1064793128
2 1.000 0.080 17 17215237 frameshift variant GA/- delins 0.700 1.000 6 2005 2017
dbSNP: rs398124530
rs398124530
1 1.000 0.080 17 17214990 stop gained C/T snv 0.700 1.000 6 2005 2015
dbSNP: rs767671406
rs767671406
2 1.000 0.080 17 17216506 splice region variant GGA/- delins 0.700 1.000 6 2010 2017
dbSNP: rs398124532
rs398124532
1 1.000 0.080 17 17213798 stop gained G/A;C snv 0.700 1.000 5 2006 2012
dbSNP: rs398124541
rs398124541
2 1.000 0.080 17 17219188 frameshift variant TTCT/- delins 8.0E-06 0.700 1.000 5 2008 2016
dbSNP: rs587782069
rs587782069
3 0.925 0.120 17 17224041 stop gained G/A snv 0.700 1.000 5 2013 2016
dbSNP: rs879255679
rs879255679
1 1.000 0.080 17 17215032 frameshift variant -/ACAG delins 0.700 1.000 5 2005 2015
dbSNP: rs758175953
rs758175953
6 0.827 0.240 17 17222500 splice donor variant C/A;G snv 1.6E-05 0.700 1.000 4 2005 2012
dbSNP: rs137852929
rs137852929
3 0.925 0.080 17 17215228 stop gained G/A;C;T snv 6.0E-05 0.700 1.000 3 2002 2008
dbSNP: rs398124542
rs398124542
3 0.925 0.080 17 17219126 frameshift variant -/GTACTCTCTGGCAACACAGGGGCTTTCT delins 4.0E-05 0.700 1.000 3 2002 2016
dbSNP: rs755959303
rs755959303
2 1.000 0.080 17 17215184 splice donor variant C/G;T snv 4.0E-06 0.700 1.000 3 2005 2016
dbSNP: rs776896550
rs776896550
2 1.000 0.080 17 17226224 frameshift variant -/T delins 4.0E-06 0.700 1.000 3 2008 2013
dbSNP: rs1555607273
rs1555607273
1 1.000 0.080 17 17215299 frameshift variant C/- delins 0.700 1.000 2 2014 2018
dbSNP: rs368778627
rs368778627
3 0.882 0.120 17 17222501 stop gained C/T snv 4.0E-06 0.700 1.000 2 2008 2012
dbSNP: rs398124534
rs398124534
2 1.000 0.080 17 17226276 frameshift variant T/- del 0.700 1.000 2 2005 2008
dbSNP: rs398124535
rs398124535
2 1.000 0.080 17 17226252 frameshift variant AC/GTG delins 0.700 1.000 2 2008 2011
dbSNP: rs864622651
rs864622651
2 1.000 0.080 17 17216428 frameshift variant G/- delins 0.700 1.000 2 2008 2014
dbSNP: rs879255677
rs879255677
2 1.000 0.080 17 17215282 frameshift variant -/GCGGCTGCGTGGACCTC delins 0.700 1.000 2 2008 2010
dbSNP: rs1131690840
rs1131690840
2 1.000 0.080 17 17222662 splice acceptor variant C/T snv 0.700 1.000 1 2005 2005
dbSNP: rs1490424623
rs1490424623
1 1.000 0.080 17 17219194 stop gained G/C snv 4.0E-06 0.700 1.000 1 2010 2010
dbSNP: rs1555608515
rs1555608515
1 1.000 0.080 17 17219083 frameshift variant AG/- delins 0.700 1.000 1 2014 2014
dbSNP: rs1567819834
rs1567819834
1 1.000 0.080 17 17224030 stop gained G/T snv 0.700 1.000 1 2011 2011
dbSNP: rs398124524
rs398124524
2 1.000 0.080 17 17217128 stop gained G/A;T snv 4.0E-06 0.700 1.000 1 2012 2012
dbSNP: rs398124528
rs398124528
2 1.000 0.080 17 17215092 splice acceptor variant T/C;G snv 0.700 1.000 1 2005 2005