Source: ALL
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: rs141159161
rs141159161
HSP90AA1
1 1.000 0.160 14 102086347 stop gained G/A;T snv 7.6E-05 0.010 1.000 1 2011 2011
dbSNP: rs199769221
rs199769221
PRSS1
8 0.790 0.280 7 142751920 missense variant G/A;C;T snv 8.0E-05; 4.0E-06 0.010 1.000 1 1997 1997
dbSNP: rs764342874
rs764342874
GSTK1 ; LOC105375545 ; LOC105375546
3 0.882 0.240 7 143263541 frameshift variant TCTTCTATGACGTGCTGTC/- delins 7.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs138584408
rs138584408
AGXT
1 1.000 0.160 2 240868867 start lost T/C snv 4.6E-05 7.0E-06 0.700 1.000 2 2004 2014
dbSNP: rs180177194
rs180177194
AGXT
1 1.000 0.160 2 240868867 start lost TG/AT mnv 0.700 1.000 1 2007 2007
dbSNP: rs180177213
rs180177213
AGXT
1 1.000 0.160 2 240868868 start lost G/T snv 0.700 1.000 1 2009 2009
dbSNP: rs796052057
rs796052057
AGXT
1 1.000 0.160 2 240868887 missense variant G/A;C;T snv 4.1E-06 0.700 0
dbSNP: rs180177201
rs180177201
AGXT
2 0.925 0.160 2 240868891 frameshift variant CC/-;C;CCC delins 0.700 1.000 5 1999 2007
dbSNP: rs180177191
rs180177191
AGXT
1 1.000 0.160 2 240868893 missense variant C/A;G;T snv 4.1E-05; 4.1E-06; 8.1E-06 0.700 1.000 1 2009 2009
dbSNP: rs34116584
rs34116584
AGXT
1 1.000 0.160 2 240868897 missense variant C/A;G;T snv 3.8E-04; 1.6E-04; 0.15 0.740 1.000 5 1995 2013
dbSNP: rs180177262
rs180177262
AGXT
1 1.000 0.160 2 240868939 missense variant T/G snv 4.0E-06 0.700 1.000 1 2007 2007
dbSNP: rs180177268
rs180177268
AGXT
1 1.000 0.160 2 240868942 missense variant T/C snv 0.700 1.000 1 2007 2007
dbSNP: rs180177278
rs180177278
AGXT
1 1.000 0.160 2 240868947 frameshift variant C/- delins 0.700 1.000 1 2009 2009
dbSNP: rs180177157
rs180177157
AGXT
1 1.000 0.160 2 240868971 missense variant C/T snv 4.0E-06 2.1E-05 0.800 1.000 5 2004 2014
dbSNP: rs180177162
rs180177162
AGXT
1 1.000 0.160 2 240868972 missense variant G/A snv 1.2E-05 0.700 1.000 1 2009 2009
dbSNP: rs180177166
rs180177166
AGXT
1 1.000 0.160 2 240868980 frameshift variant -/CA delins 0.700 1.000 2 2006 2015
dbSNP: rs121908523
rs121908523
AGXT
3 0.882 0.160 2 240868986 missense variant G/A snv 1.2E-05 4.2E-05 0.800 1.000 20 1991 2014
dbSNP: rs180177171
rs180177171
AGXT
1 1.000 0.160 2 240868986 frameshift variant G/-;GG delins 0.700 1.000 2 2007 2015
dbSNP: rs180177168
rs180177168
AGXT
2 0.925 0.160 2 240868987 missense variant G/A;C;T snv 4.0E-06 0.800 1.000 10 1999 2012
dbSNP: rs180177170
rs180177170
AGXT
1 1.000 0.160 2 240868990 missense variant G/A snv 8.1E-06 0.700 1.000 1 2009 2009
dbSNP: rs180177172
rs180177172
AGXT
1 1.000 0.160 2 240868995 stop gained C/T snv 0.700 1.000 2 1999 2001
dbSNP: rs180177173
rs180177173
AGXT
1 1.000 0.160 2 240869004 missense variant G/A;C snv 2.5E-05; 4.1E-06 0.800 1.000 2 2007 2012
dbSNP: rs180177177
rs180177177
AGXT
1 1.000 0.160 2 240869169 splice acceptor variant G/A snv 0.700 1.000 1 2004 2004
dbSNP: rs180177180
rs180177180
AGXT
1 1.000 0.160 2 240869171 missense variant T/A;G snv 5.6E-05 0.700 1.000 1 2009 2009
dbSNP: rs767586362
rs767586362
AGXT
1 1.000 0.160 2 240869179 missense variant G/A snv 1.2E-05 7.0E-06 0.700 0