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: rs1057516896
rs1057516896
AGXT
1 1.000 0.160 2 240874055 frameshift variant AAGG/- del 0.700 0
dbSNP: rs111742810
rs111742810
AGXT
1 1.000 0.160 2 240874064 splice donor variant T/A snv 0.700 0
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: rs112673831
rs112673831
AGXT
1 1.000 0.160 2 240875108 splice acceptor variant G/A;C;T snv 4.0E-06; 8.0E-06 0.700 0
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
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: rs121908521
rs121908521
AGXT
1 1.000 0.160 2 240869202 stop gained C/G;T snv 4.0E-06; 4.0E-05 0.700 1.000 1 1991 1991
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: 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: 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: 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: 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: rs121908528
rs121908528
AGXT
1 1.000 0.160 2 240875166 stop gained G/A snv 0.700 1.000 1 1997 1997
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: 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: rs138025751
rs138025751
AGXT
1 1.000 0.160 2 240869357 missense variant G/A;C snv 2.6E-05; 4.4E-06 0.700 0
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: 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: rs1553648488
rs1553648488
AGXT
1 1.000 0.160 2 240870688 frameshift variant -/CTGCA delins 0.700 1.000 2 2016 2017
dbSNP: rs1553648493
rs1553648493
AGXT
1 1.000 0.160 2 240870709 splice donor variant G/A snv 0.700 0
dbSNP: rs1553648568
rs1553648568
AGXT
1 1.000 0.160 2 240871451 splice donor variant T/A snv 0.700 0
dbSNP: rs1553648931
rs1553648931
AGXT
1 1.000 0.160 2 240874542 splice acceptor variant CCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTC/TGAGA delins 0.700 1.000 1 2010 2010
dbSNP: rs1553649007
rs1553649007
AGXT
1 1.000 0.160 2 240875206 splice donor variant T/G snv 0.700 0
dbSNP: rs1553649375
rs1553649375
AGXT
1 1.000 0.160 2 240877535 splice acceptor variant AG/- del 0.700 0