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: rs180177286
rs180177286
AGXT
1 1.000 0.160 2 240877534 splice region variant C/A;G;T snv 4.6E-05; 4.0E-05 0.700 1.000 7 2000 2015
dbSNP: rs180177161
rs180177161
AGXT
3 0.882 0.160 2 240878721 missense variant G/A;C snv 5.9E-06 0.700 1.000 5 2009 2017
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: rs180177195
rs180177195
AGXT
1 1.000 0.160 2 240869306 missense variant T/C snv 3.2E-05 7.0E-06 0.700 1.000 4 2009 2013
dbSNP: rs180177301
rs180177301
AGXT
1 1.000 0.160 2 240878055 frameshift variant G/- del 8.0E-06 0.700 1.000 4 1999 2014
dbSNP: rs180177259
rs180177259
AGXT
1 1.000 0.160 2 240875165 stop gained G/A snv 0.700 1.000 3 2007 2014
dbSNP: rs180177267
rs180177267
AGXT
1 1.000 0.160 2 240875934 splice acceptor variant G/C snv 1.6E-05 1.4E-05 0.700 1.000 3 2004 2007
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: rs1553648488
rs1553648488
AGXT
1 1.000 0.160 2 240870688 frameshift variant -/CTGCA delins 0.700 1.000 2 2016 2017
dbSNP: rs180177166
rs180177166
AGXT
1 1.000 0.160 2 240868980 frameshift variant -/CA delins 0.700 1.000 2 2006 2015
dbSNP: rs180177171
rs180177171
AGXT
1 1.000 0.160 2 240868986 frameshift variant G/-;GG delins 0.700 1.000 2 2007 2015
dbSNP: rs180177172
rs180177172
AGXT
1 1.000 0.160 2 240868995 stop gained C/T snv 0.700 1.000 2 1999 2001
dbSNP: rs180177184
rs180177184
AGXT
1 1.000 0.160 2 240869246 stop gained C/A;T snv 1.2E-05 0.700 1.000 2 2009 2014
dbSNP: rs180177234
rs180177234
AGXT
1 1.000 0.160 2 240872978 splice acceptor variant G/A snv 7.0E-06 0.700 1.000 2 2000 2007
dbSNP: rs180177235
rs180177235
AGXT
1 1.000 0.160 2 240872987 missense variant G/A snv 0.700 1.000 2 2014 2015
dbSNP: rs180177241
rs180177241
AGXT
1 1.000 0.160 2 240873026 frameshift variant C/-;CC delins 0.700 1.000 2 2009 2015
dbSNP: rs180177265
rs180177265
AGXT
1 1.000 0.160 2 240875205 splice donor variant G/A;C snv 4.0E-06 0.700 1.000 2 2007 2007
dbSNP: rs180177281
rs180177281
AGXT
1 1.000 0.160 2 240876005 splice donor variant G/A;T snv 1.2E-05 0.700 1.000 2 2004 2009
dbSNP: rs180177292
rs180177292
AGXT
1 1.000 0.160 2 240877581 stop gained T/C;G snv 6.5E-06 0.700 1.000 2 2009 2014
dbSNP: rs180177298
rs180177298
AGXT
1 1.000 0.160 2 240878021 splice acceptor variant G/A;T snv 0.700 1.000 2 2009 2015
dbSNP: rs111996685
rs111996685
AGXT
1 1.000 0.160 2 240874063 splice donor variant G/A;C snv 0.700 1.000 1 2009 2009
dbSNP: rs113681235
rs113681235
AGXT
1 1.000 0.160 2 240869364 splice donor variant T/A;G snv 9.1E-06 0.700 1.000 1 2009 2009