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: 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: rs180177207
rs180177207
AGXT
1 1.000 0.160 2 240869350 missense variant G/A snv 4.3E-06 2.1E-05 0.800 1.000 6 1999 2014
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: 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: rs180177227
rs180177227
AGXT
3 0.882 0.160 2 240871406 missense variant G/A;C;T snv 1.8E-05; 1.3E-05 0.800 1.000 5 2006 2013
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: 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: rs180177264
rs180177264
AGXT
1 1.000 0.160 2 240875185 missense variant T/C snv 4.0E-06 0.800 1.000 3 2005 2012
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: rs180177155
rs180177155
AGXT
1 1.000 0.160 2 240878086 missense variant T/A snv 4.0E-06 0.800 1.000 2 2004 2012
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: 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: 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: rs180177185
rs180177185
AGXT
1 1.000 0.160 2 240869248 missense variant G/C snv 4.0E-06 0.800 1.000 2 2004 2012
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: rs180177222
rs180177222
AGXT
1 1.000 0.160 2 240871374 missense variant T/C snv 0.800 1.000 2 2007 2012
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