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: rs774925473
rs774925473
3 0.925 0.200 11 108309110 intron variant A/G snv 2.4E-05 4.2E-05 0.700 1.000 7 1996 2017
dbSNP: rs876659489
rs876659489
2 1.000 0.200 11 108310158 splice acceptor variant A/C;G;T snv 4.0E-06 0.700 1.000 2 1998 2012
dbSNP: rs786202814
rs786202814
1 11 108310161 frameshift variant C/- delins 0.700 0
dbSNP: rs876658831
rs876658831
1 11 108310168 stop gained C/A;T snv 0.700 1.000 2 2000 2015
dbSNP: rs1131691254
rs1131691254
1 11 108310176 frameshift variant -/T delins 0.700 1.000 1 2016 2016
dbSNP: rs587779851
rs587779851
2 1.000 0.200 11 108310188 frameshift variant G/CCT delins 0.700 1.000 3 1999 2018
dbSNP: rs1555110295
rs1555110295
1 11 108310188 frameshift variant GCT/CCTC delins 0.700 0
dbSNP: rs876658740
rs876658740
2 1.000 0.200 11 108310195 stop gained G/A snv 1.4E-05 0.700 0
dbSNP: rs147187700
rs147187700
3 0.925 0.120 11 108310218 missense variant G/C snv 1.3E-04 1.8E-04 0.700 0
dbSNP: rs1555110418
rs1555110418
1 11 108310250 frameshift variant C/- del 0.700 0
dbSNP: rs587781963
rs587781963
1 11 108310255 missense variant C/G;T snv 0.700 1.000 1 2009 2009
dbSNP: rs1060501657
rs1060501657
2 1.000 0.200 11 108310266 frameshift variant AT/- delins 0.700 0
dbSNP: rs201963507
rs201963507
2 1.000 0.200 11 108310287 stop gained A/G;T snv 1.0E-04 0.700 1.000 1 2008 2008
dbSNP: rs587781727
rs587781727
1 11 108310287 frameshift variant AAAAG/- delins 0.700 0
dbSNP: rs1555110517
rs1555110517
1 11 108310290 frameshift variant -/AAAGTAT delins 0.700 0
dbSNP: rs587781722
rs587781722
3 0.925 0.280 11 108310305 stop gained C/T snv 3.2E-05 2.0E-04 0.700 1.000 4 1998 2015
dbSNP: rs587782198
rs587782198
2 1.000 0.200 11 108310306 frameshift variant A/- delins 0.700 1.000 1 1998 1998
dbSNP: rs746623393
rs746623393
2 1.000 0.200 11 108312409 splice acceptor variant A/C;G snv 4.0E-06 0.700 0
dbSNP: rs587779852
rs587779852
3 0.882 0.280 11 108312424 stop gained G/T snv 4.4E-05 3.5E-05 0.700 1.000 19 1998 2018
dbSNP: rs1555111763
rs1555111763
1 11 108312427 stop gained G/T snv 0.700 0
dbSNP: rs1555111808
rs1555111808
1 11 108312448 frameshift variant -/T delins 0.700 0
dbSNP: rs786203404
rs786203404
2 1.000 0.200 11 108312463 stop gained G/A;T snv 4.0E-06 1.4E-05 0.700 1.000 2 1999 2015
dbSNP: rs876660134
rs876660134
2 1.000 0.200 11 108312467 frameshift variant TAAAG/- delins 0.700 1.000 4 1996 2006
dbSNP: rs1555111855
rs1555111855
2 1.000 0.200 11 108312472 frameshift variant A/-;AA delins 0.700 0
dbSNP: rs1565493693
rs1565493693
1 11 108312472 stop gained A/T snv 0.700 0