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: rs587781299
rs587781299
3 0.925 0.280 11 108327665 frameshift variant -/A delins 0.700 1.000 8 1998 2016
dbSNP: rs773570504
rs773570504
2 1.000 0.200 11 108326152 frameshift variant -/A delins 1.6E-05 7.0E-06 0.700 1.000 4 2002 2012
dbSNP: rs587780645
rs587780645
2 1.000 0.200 11 108365415 frameshift variant -/A delins 0.700 1.000 3 2000 2011
dbSNP: rs876660235
rs876660235
2 1.000 0.200 11 108365356 frameshift variant -/A delins 0.700 1.000 1 2011 2011
dbSNP: rs876660411
rs876660411
1 11 108347316 frameshift variant -/A delins 0.700 1.000 1 2012 2012
dbSNP: rs1555116533
rs1555116533
2 1.000 0.200 11 108320047 frameshift variant -/A delins 0.700 0
dbSNP: rs1555119247
rs1555119247
1 11 108325484 frameshift variant -/A delins 0.700 0
dbSNP: rs797045030
rs797045030
2 1.000 0.200 11 108315864 frameshift variant -/A delins 0.700 0
dbSNP: rs876659010
rs876659010
1 11 108345833 frameshift variant -/A delins 0.700 0
dbSNP: rs786203272
rs786203272
1 11 108345797 frameshift variant -/AA delins 0.700 1.000 1 1998 1998
dbSNP: rs587782525
rs587782525
1 11 108335898 frameshift variant -/AA delins 0.700 0
dbSNP: rs1555110517
rs1555110517
1 11 108310290 frameshift variant -/AAAGTAT delins 0.700 0
dbSNP: rs876658959
rs876658959
2 1.000 0.200 11 108354841 stop gained -/AACT delins 0.700 1.000 2 1996 1997
dbSNP: rs1555124089
rs1555124089
1 11 108331525 frameshift variant -/AG delins 0.700 0
dbSNP: rs1555151395
rs1555151395
1 11 108365155 frameshift variant -/AGAT delins 0.700 0
dbSNP: rs1438576066
rs1438576066
1 11 108315830 frameshift variant -/C delins 0.700 0
dbSNP: rs1555121020
rs1555121020
1 11 108327694 frameshift variant -/C delins 0.700 0
dbSNP: rs1555116468
rs1555116468
1 11 108320009 frameshift variant -/CT ins 0.700 0
dbSNP: rs1057516282
rs1057516282
2 1.000 0.200 11 108365400 frameshift variant -/G delins 0.700 1.000 3 2003 2015
dbSNP: rs587781872
rs587781872
1 11 108325408 frameshift variant -/G delins 0.700 0
dbSNP: rs1565498646
rs1565498646
1 11 108315819 coding sequence variant -/GATCTTCTCTTAGAAATCTACAG delins 0.700 0
dbSNP: rs1555128432
rs1555128432
2 1.000 0.200 11 108335893 frameshift variant -/GT delins 0.700 0
dbSNP: rs1131691254
rs1131691254
1 11 108310176 frameshift variant -/T delins 0.700 1.000 1 2016 2016
dbSNP: rs1555119834
rs1555119834
4 0.882 0.280 11 108326116 frameshift variant -/T delins 0.700 1.000 1 1999 1999
dbSNP: rs876660813
rs876660813
1 11 108353859 frameshift variant -/T delins 0.700 1.000 1 1998 1998