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: rs796052069
rs796052069
AGXT
1 1.000 0.160 2 240869217 frameshift variant -/A delins 0.700 0
dbSNP: rs180177166
rs180177166
AGXT
1 1.000 0.160 2 240868980 frameshift variant -/CA delins 0.700 1.000 2 2006 2015
dbSNP: rs1553648488
rs1553648488
AGXT
1 1.000 0.160 2 240870688 frameshift variant -/CTGCA delins 0.700 1.000 2 2016 2017
dbSNP: rs180177190
rs180177190
AGXT
1 1.000 0.160 2 240869285 inframe insertion -/GAG delins 0.700 1.000 1 1999 1999
dbSNP: rs180177257
rs180177257
AGXT
1 1.000 0.160 2 240875152 frameshift variant -/T delins 0.700 1.000 1 2007 2007
dbSNP: rs180177183
rs180177183
AGXT
1 1.000 0.160 2 240869224 frameshift variant -/TCACACT delins 0.700 1.000 1 2000 2000
dbSNP: rs180177224
rs180177224
AGXT
1 1.000 0.160 2 240871384 frameshift variant A/- delins 0.700 1.000 1 2009 2009
dbSNP: rs180177272
rs180177272
AGXT
1 1.000 0.160 2 240875981 missense variant A/C snv 0.700 1.000 1 2009 2009
dbSNP: rs180177243
rs180177243
AGXT
1 1.000 0.160 2 240873037 missense variant A/C;G snv 4.0E-06; 4.0E-06 0.700 1.000 1 2009 2009
dbSNP: rs180177211
rs180177211
AGXT
1 1.000 0.160 2 240870656 missense variant A/C;G snv 1.2E-05 0.700 0
dbSNP: rs180177303
rs180177303
AGXT
1 1.000 0.160 2 240878076 stop gained A/C;T snv 4.0E-06 0.700 1.000 1 1999 1999
dbSNP: rs180177186
rs180177186
AGXT
1 1.000 0.160 2 240869252 missense variant A/G snv 0.700 1.000 1 2009 2009
dbSNP: rs180177219
rs180177219
AGXT
1 1.000 0.160 2 240871347 splice acceptor variant A/G snv 0.700 1.000 1 2007 2007
dbSNP: rs180177245
rs180177245
AGXT
1 1.000 0.160 2 240873976 splice acceptor variant A/G snv 0.700 1.000 1 2015 2015
dbSNP: rs796052068
rs796052068
AGXT
1 1.000 0.160 2 240875933 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1057516896
rs1057516896
AGXT
1 1.000 0.160 2 240874055 frameshift variant AAGG/- del 0.700 0
dbSNP: rs180177255
rs180177255
AGXT
1 1.000 0.160 2 240874061 splice donor variant AAGT/- del 1.2E-05 0.700 1.000 1 2001 2001
dbSNP: rs1553649375
rs1553649375
AGXT
1 1.000 0.160 2 240877535 splice acceptor variant AG/- del 0.700 0
dbSNP: rs180177273
rs180177273
AGXT
2 0.925 0.160 2 240875974 frameshift variant AG/-;AGAG delins 0.700 1.000 1 2004 2004
dbSNP: rs180177261
rs180177261
AGXT
1 1.000 0.160 2 240875171 frameshift variant C/- delins 0.700 1.000 1 2004 2004
dbSNP: rs180177276
rs180177276
AGXT
1 1.000 0.160 2 240875992 frameshift variant C/- del 0.700 1.000 1 2009 2009
dbSNP: rs180177278
rs180177278
AGXT
1 1.000 0.160 2 240868947 frameshift variant C/- delins 0.700 1.000 1 2009 2009
dbSNP: rs180177295
rs180177295
AGXT
1 1.000 0.160 2 240877609 frameshift variant C/- del 0.700 1.000 1 2009 2009
dbSNP: rs180177241
rs180177241
AGXT
1 1.000 0.160 2 240873026 frameshift variant C/-;CC delins 0.700 1.000 2 2009 2015
dbSNP: rs180177246
rs180177246
AGXT
1 1.000 0.160 2 240873985 missense variant C/A snv 8.0E-06 7.0E-06 0.800 1.000 2 2005 2012