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: rs63750563
rs63750563
4 0.925 0.160 2 47800996 stop gained C/A;T snv 4.8E-06 0.700 1.000 4 2004 2013
dbSNP: rs63750833
rs63750833
3 1.000 0.160 2 47801136 frameshift variant AG/- delins 7.0E-06 0.700 1.000 4 2005 2017
dbSNP: rs760190301
rs760190301
3 1.000 0.160 2 47806582 frameshift variant -/GTTA delins 4.0E-06 0.700 1.000 4 1998 2017
dbSNP: rs1316409501
rs1316409501
2 1.000 0.160 2 47803663 missense variant G/A;T snv 4.0E-06 0.700 1.000 3 1998 2012
dbSNP: rs1553333738
rs1553333738
3 1.000 0.160 2 47806628 frameshift variant -/ATCA delins 0.700 1.000 3 2010 2014
dbSNP: rs267608076
rs267608076
3 1.000 0.160 2 47799618 frameshift variant AG/- delins 0.700 1.000 3 2006 2015
dbSNP: rs267608077
rs267608077
4 0.925 0.160 2 47799112 frameshift variant AGAGA/- delins 0.700 1.000 3 2006 2016
dbSNP: rs267608121
rs267608121
4 0.925 0.160 2 47806630 frameshift variant -/GTCA delins 0.700 1.000 3 2003 2014
dbSNP: rs587782712
rs587782712
3 1.000 0.160 2 47801017 frameshift variant AAGAA/- delins 7.0E-06 0.700 1.000 3 2015 2017
dbSNP: rs63750019
rs63750019
3 1.000 0.160 2 47798701 stop gained C/A;T snv 4.0E-06; 4.0E-06 0.700 1.000 3 2008 2011
dbSNP: rs63750194
rs63750194
3 1.000 0.160 2 47804983 frameshift variant TA/- delins 0.700 1.000 3 2004 2014
dbSNP: rs63751319
rs63751319
4 0.925 0.160 2 47806490 frameshift variant GGAGACT/- del 0.700 1.000 3 2006 2010
dbSNP: rs750528093
rs750528093
3 1.000 0.160 2 47799278 missense variant T/C;G snv 4.0E-06 0.700 1.000 3 2000 2009
dbSNP: rs863225421
rs863225421
3 1.000 0.160 2 47798881 frameshift variant -/G delins 0.700 1.000 3 2010 2017
dbSNP: rs146816935
rs146816935
3 1.000 0.160 2 47798875 stop gained C/G;T snv 4.0E-06; 8.0E-06 0.700 1.000 2 2016 2016
dbSNP: rs1553414519
rs1553414519
2 1.000 0.160 2 47801090 frameshift variant GT/- delins 0.700 1.000 2 2016 2017
dbSNP: rs200492211
rs200492211
3 1.000 0.160 2 47801125 stop gained C/G;T snv 4.0E-06 0.700 1.000 2 2010 2014
dbSNP: rs267608065
rs267608065
3 1.000 0.160 2 47800330 frameshift variant GT/- delins 0.700 1.000 2 2008 2010
dbSNP: rs267608114
rs267608114
3 1.000 0.160 2 47806354 frameshift variant AT/- delins 0.700 1.000 2 2009 2014
dbSNP: rs63750909
rs63750909
4 0.925 0.160 2 47799427 stop gained C/A;G;T snv 4.0E-06 0.700 1.000 2 2004 2009
dbSNP: rs730881830
rs730881830
3 1.000 0.160 2 47806588 frameshift variant -/TC delins 0.700 1.000 2 2016 2017
dbSNP: rs1021631442
rs1021631442
3 0.882 0.200 2 47806279 missense variant G/A snv 0.700 1.000 1 2012 2012
dbSNP: rs1057517764
rs1057517764
3 1.000 0.160 2 47805628 frameshift variant -/T delins 7.0E-06 0.700 1.000 1 2010 2010
dbSNP: rs1114167801
rs1114167801
2 1.000 0.160 2 47799109 frameshift variant AAAGA/- delins 0.700 1.000 1 2007 2007
dbSNP: rs1553332166
rs1553332166
2 1.000 0.160 2 47804934 stop gained C/G;T snv 0.700 1.000 1 2017 2017