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: rs121908525
rs121908525
AGXT
7 0.790 0.160 2 240875159 missense variant T/C snv 4.4E-05 5.6E-05 0.860 1.000 29 1991 2015
dbSNP: rs121908529
rs121908529
AGXT
4 0.851 0.160 2 240871433 missense variant G/A;C snv 5.6E-04 0.850 1.000 31 1990 2019
dbSNP: rs121908524
rs121908524
AGXT
2 0.925 0.160 2 240871379 missense variant T/A snv 9.0E-05 1.5E-04 0.820 1.000 25 1991 2014
dbSNP: rs121908530
rs121908530
AGXT
1 1.000 0.160 2 240871391 missense variant G/A;C snv 3.1E-05 0.800 1.000 25 1991 2014
dbSNP: rs121908522
rs121908522
AGXT
1 1.000 0.160 2 240869249 missense variant G/A snv 2.0E-05 0.800 1.000 24 1991 2014
dbSNP: rs121908526
rs121908526
AGXT
1 1.000 0.160 2 240875125 missense variant C/T snv 5.6E-05 4.9E-05 0.800 1.000 24 1991 2014
dbSNP: rs121908527
rs121908527
AGXT
1 1.000 0.160 2 240875126 missense variant G/A;C;T snv 1.6E-05; 4.0E-06 0.800 1.000 24 1991 2015
dbSNP: rs121908520
rs121908520
AGXT
1 1.000 0.160 2 240873995 missense variant T/C snv 4.0E-06 3.5E-05 0.800 1.000 21 1991 2014
dbSNP: rs536352238
rs536352238
AGXT
1 1.000 0.160 2 240873987 missense variant T/A;C snv 4.0E-06 0.800 1.000 21 1991 2014
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: rs180177197
rs180177197
AGXT
1 1.000 0.160 2 240869326 missense variant T/C snv 4.0E-06 0.800 1.000 11 1998 2014
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: rs180177225
rs180177225
AGXT
1 1.000 0.160 2 240871398 stop gained C/A;T snv 4.4E-06; 4.4E-06 0.800 1.000 9 2005 2015
dbSNP: rs180177238
rs180177238
AGXT
1 1.000 0.160 2 240873014 missense variant C/T snv 4.0E-06 2.1E-05 0.800 1.000 9 1992 2015
dbSNP: rs180177156
rs180177156
AGXT
1 1.000 0.160 2 240878128 missense variant G/A;T snv 4.4E-05; 4.0E-06 0.800 1.000 7 1998 2015
dbSNP: rs180177239
rs180177239
AGXT
1 1.000 0.160 2 240873022 missense variant G/A snv 4.4E-05 0.800 1.000 7 1998 2014
dbSNP: rs180177253
rs180177253
AGXT
1 1.000 0.160 2 240874035 missense variant C/T snv 4.0E-06 2.1E-05 0.800 1.000 7 2003 2012
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: 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: 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: 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: 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: 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: rs180177222
rs180177222
AGXT
1 1.000 0.160 2 240871374 missense variant T/C snv 0.800 1.000 2 2007 2012