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: rs180177223
rs180177223
AGXT
1 1.000 0.160 2 240871382 missense variant T/G snv 0.800 1.000 2 2004 2012
dbSNP: rs180177230
rs180177230
AGXT
1 1.000 0.160 2 240871422 missense variant T/A;C snv 9.1E-06; 1.4E-05 0.800 1.000 2 2007 2012
dbSNP: rs180177231
rs180177231
AGXT
1 1.000 0.160 2 240871443 missense variant G/A snv 0.800 1.000 2 1998 2012
dbSNP: rs180177236
rs180177236
AGXT
1 1.000 0.160 2 240873001 missense variant G/A snv 0.800 1.000 2 2000 2012
dbSNP: rs180177244
rs180177244
AGXT
1 1.000 0.160 2 240873038 missense variant T/C;G snv 4.0E-06 0.800 1.000 2 2005 2012
dbSNP: rs180177246
rs180177246
AGXT
1 1.000 0.160 2 240873985 missense variant C/A snv 8.0E-06 7.0E-06 0.800 1.000 2 2005 2012
dbSNP: rs180177258
rs180177258
AGXT
1 1.000 0.160 2 240875155 missense variant G/C snv 0.800 1.000 2 2005 2012
dbSNP: rs180177289
rs180177289
AGXT
1 1.000 0.160 2 240877550 missense variant GC/CG mnv 0.800 1.000 2 2005 2012
dbSNP: rs180177293
rs180177293
AGXT
1 1.000 0.160 2 240877583 missense variant T/C snv 0.800 1.000 2 1999 2012
dbSNP: rs796052061
rs796052061
AGXT
1 1.000 0.160 2 240869339 missense variant C/A snv 0.800 1.000 2 2003 2012
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: rs180177210
rs180177210
AGXT
1 1.000 0.160 2 240870649 stop gained C/T snv 6.3E-06 0.710 1.000 2 2009 2019
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