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: rs180177201
rs180177201
AGXT
2 0.925 0.160 2 240868891 frameshift variant CC/-;C;CCC delins 0.700 1.000 5 1999 2007
dbSNP: rs180177259
rs180177259
AGXT
1 1.000 0.160 2 240875165 stop gained G/A snv 0.700 1.000 3 2007 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: 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: rs180177231
rs180177231
AGXT
1 1.000 0.160 2 240871443 missense variant G/A snv 0.800 1.000 2 1998 2012
dbSNP: rs180177234
rs180177234
AGXT
1 1.000 0.160 2 240872978 splice acceptor variant G/A snv 7.0E-06 0.700 1.000 2 2000 2007
dbSNP: rs180177235
rs180177235
AGXT
1 1.000 0.160 2 240872987 missense variant G/A snv 0.700 1.000 2 2014 2015
dbSNP: rs180177236
rs180177236
AGXT
1 1.000 0.160 2 240873001 missense variant G/A snv 0.800 1.000 2 2000 2012
dbSNP: rs180177241
rs180177241
AGXT
1 1.000 0.160 2 240873026 frameshift variant C/-;CC delins 0.700 1.000 2 2009 2015
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: rs180177298
rs180177298
AGXT
1 1.000 0.160 2 240878021 splice acceptor variant G/A;T snv 0.700 1.000 2 2009 2015
dbSNP: rs796052061
rs796052061
AGXT
1 1.000 0.160 2 240869339 missense variant C/A snv 0.800 1.000 2 2003 2012
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: rs121908528
rs121908528
AGXT
1 1.000 0.160 2 240875166 stop gained G/A snv 0.700 1.000 1 1997 1997
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: rs180177158
rs180177158
AGXT
1 1.000 0.160 2 240878151 splice donor variant G/A snv 0.700 1.000 1 2009 2009
dbSNP: rs180177163
rs180177163
AGXT
1 1.000 0.160 2 240878744 missense variant G/A snv 0.700 1.000 1 2009 2009
dbSNP: rs180177164
rs180177164
AGXT
1 1.000 0.160 2 240878765 frameshift variant CG/- delins 0.700 1.000 1 2001 2001
dbSNP: rs180177177
rs180177177
AGXT
1 1.000 0.160 2 240869169 splice acceptor variant G/A snv 0.700 1.000 1 2004 2004