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: rs775899653
rs775899653
1 11 108343231 frameshift variant TCTC/-;TC delins 0.700 1.000 6 1996 2009
dbSNP: rs587782847
rs587782847
1 11 108365382 frameshift variant AACTGAAAGGA/- delins 0.700 1.000 5 2003 2017
dbSNP: rs876660743
rs876660743
1 11 108333941 inframe deletion TGT/- delins 0.700 1.000 5 1999 2011
dbSNP: rs587782114
rs587782114
1 11 108317500 stop gained G/A snv 0.700 1.000 4 2008 2015
dbSNP: rs876658415
rs876658415
1 11 108315872 missense variant A/G snv 7.0E-06 0.700 1.000 3 2001 2012
dbSNP: rs1282099124
rs1282099124
1 11 108326163 stop gained C/G;T snv 0.700 1.000 2 2003 2006
dbSNP: rs529296539
rs529296539
1 11 108345819 missense variant G/A;C;T snv 1.2E-04 0.700 1.000 2 1998 2009
dbSNP: rs773516672
rs773516672
1 11 108330355 stop gained G/A snv 1.6E-05 1.4E-05 0.700 1.000 2 1998 1998
dbSNP: rs876658831
rs876658831
1 11 108310168 stop gained C/A;T snv 0.700 1.000 2 2000 2015
dbSNP: rs876659235
rs876659235
1 11 108365340 frameshift variant T/- delins 0.700 1.000 2 2006 2007
dbSNP: rs1131691254
rs1131691254
1 11 108310176 frameshift variant -/T delins 0.700 1.000 1 2016 2016
dbSNP: rs587781963
rs587781963
1 11 108310255 missense variant C/G;T snv 0.700 1.000 1 2009 2009
dbSNP: rs730881385
rs730881385
1 11 108335104 missense variant G/T snv 0.700 1.000 1 2015 2015
dbSNP: rs786202120
rs786202120
1 11 108335942 frameshift variant ACTA/- delins 0.700 1.000 1 2012 2012
dbSNP: rs786202323
rs786202323
1 11 108320040 frameshift variant AA/-;AAA delins 0.700 1.000 1 2006 2006
dbSNP: rs786203272
rs786203272
1 11 108345797 frameshift variant -/AA delins 0.700 1.000 1 1998 1998
dbSNP: rs786203631
rs786203631
1 11 108365219 splice donor variant G/C snv 4.0E-06 0.700 1.000 1 2003 2003
dbSNP: rs794728018
rs794728018
1 11 108353826 missense variant C/T snv 0.700 1.000 1 2007 2007
dbSNP: rs876660066
rs876660066
1 11 108347278 splice acceptor variant G/A snv 0.700 1.000 1 2012 2012
dbSNP: rs876660088
rs876660088
1 11 108353765 splice acceptor variant G/C;T snv 0.700 1.000 1 2012 2012
dbSNP: rs876660411
rs876660411
1 11 108347316 frameshift variant -/A delins 0.700 1.000 1 2012 2012
dbSNP: rs876660813
rs876660813
1 11 108353859 frameshift variant -/T delins 0.700 1.000 1 1998 1998
dbSNP: rs1131691156
rs1131691156
1 11 108325509 frameshift variant CT/- delins 0.700 0
dbSNP: rs1131691157
rs1131691157
1 11 108329192 frameshift variant AA/- delins 0.700 0
dbSNP: rs1131691158
rs1131691158
1 11 108345755 stop gained A/T snv 0.700 0