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: rs63751327
rs63751327
4 0.925 0.160 2 47804984 frameshift variant -/A;AA delins 0.700 1.000 3 2007 2010
dbSNP: rs267608128
rs267608128
4 0.925 0.160 2 47806496 frameshift variant -/ATTA delins 0.700 1.000 3 2010 2012
dbSNP: rs876661222
rs876661222
4 0.925 0.160 2 47806309 stop gained -/ATTA delins 0.700 0
dbSNP: rs1553333753
rs1553333753
4 0.925 0.160 2 47806643 splice donor variant -/ATTT delins 0.700 0
dbSNP: rs1553408245
rs1553408245
1 1.000 0.160 2 47783357 frameshift variant -/CTTCCCCA delins 0.700 0
dbSNP: rs786201050
rs786201050
4 0.925 0.160 2 47800211 frameshift variant -/G delins 7.0E-06 0.700 1.000 2 2013 2017
dbSNP: rs267608121
rs267608121
4 0.925 0.160 2 47806630 frameshift variant -/GTCA delins 0.700 1.000 6 2003 2015
dbSNP: rs587779241
rs587779241
3 0.925 0.160 2 47800517 frameshift variant -/T delins 0.700 1.000 1 2010 2010
dbSNP: rs1057517551
rs1057517551
3 1.000 0.160 2 47798890 frameshift variant -/T delins 0.700 0
dbSNP: rs63750955
rs63750955
4 0.925 0.160 2 47798633 frameshift variant -/T delins 1.4E-05 0.700 0
dbSNP: rs786201084
rs786201084
3 1.000 0.160 2 47806300 frameshift variant -/T ins 0.700 0
dbSNP: rs1553331659
rs1553331659
2 1.000 0.160 2 47803615 frameshift variant A/-;AA delins 0.700 0
dbSNP: rs267608041
rs267608041
3 1.000 0.160 2 47798718 frameshift variant A/-;AA delins 7.0E-06 0.700 0
dbSNP: rs267608098
rs267608098
4 0.925 0.160 2 47804908 splice acceptor variant A/G;T snv 0.700 1.000 2 1999 2010
dbSNP: rs730881827
rs730881827
3 1.000 0.160 2 47800815 frameshift variant AA/- del 0.700 1.000 1 2016 2016
dbSNP: rs267608064
rs267608064
4 0.925 0.160 2 47799614 frameshift variant AAAA/-;AA delins 0.700 0
dbSNP: rs63750735
rs63750735
3 0.925 0.160 2 47799789 frameshift variant AAAG/- del 0.700 0
dbSNP: rs63749874
rs63749874
4 0.925 0.160 2 47799616 frameshift variant AAGA/- delins 0.700 0
dbSNP: rs1553414239
rs1553414239
2 0.925 0.160 2 47800856 frameshift variant AG/- del 0.700 0
dbSNP: rs193922343
rs193922343
4 0.925 0.160 2 47806254 frameshift variant AGAA/-;AGAAAAGAA;AGAAAGAA delins 0.700 1.000 3 2008 2015
dbSNP: rs267608077
rs267608077
4 0.925 0.160 2 47799112 frameshift variant AGAGA/- delins 0.700 0
dbSNP: rs878853702
rs878853702
3 1.000 0.160 2 47799332 frameshift variant AT/- delins 0.700 1.000 1 2016 2016
dbSNP: rs63751234
rs63751234
1 1.000 0.160 2 47799585 frameshift variant C/- del 0.700 0
dbSNP: rs267608078
rs267608078
5 0.882 0.160 2 47803501 frameshift variant C/-;CC;CCC delins 0.700 1.000 2 1999 2008
dbSNP: rs730881816
rs730881816
4 0.925 0.160 2 47799788 stop gained C/A;G snv 0.700 1.000 1 2016 2016