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: rs796052065
rs796052065
AGXT
1 1.000 0.160 2 240878124 missense variant G/A snv 0.700 0
dbSNP: rs796052066
rs796052066
AGXT
1 1.000 0.160 2 240878790 missense variant C/A snv 0.700 0
dbSNP: rs796052068
rs796052068
AGXT
1 1.000 0.160 2 240875933 splice acceptor variant A/G snv 0.700 0
dbSNP: rs796052069
rs796052069
AGXT
1 1.000 0.160 2 240869217 frameshift variant -/A delins 0.700 0
dbSNP: rs796052070
rs796052070
AGXT
1 1.000 0.160 2 240870640 splice acceptor variant GGAGCCCGAGTGCACCCGATGACCA/- delins 0.700 0
dbSNP: rs796052071
rs796052071
AGXT
1 1.000 0.160 2 240874042 inframe deletion CCT/- delins 0.700 0
dbSNP: rs796052074
rs796052074
AGXT
1 1.000 0.160 2 240878036 frameshift variant CA/- delins 0.700 0
dbSNP: rs796052075
rs796052075
AGXT
1 1.000 0.160 2 240878750 frameshift variant CG/- delins 0.700 0
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: 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: 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