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: 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 1.000 2 2010 2011
dbSNP: rs587779301
rs587779301
2 1.000 0.160 2 47806645 splice donor variant -/ATTTC delins 0.700 0
dbSNP: rs1553331454
rs1553331454
1 2 47803527 frameshift variant -/C delins 0.700 0
dbSNP: rs1553412441
rs1553412441
2 1.000 0.160 2 47799022 frameshift variant -/C ins 0.700 0
dbSNP: rs878853709
rs878853709
1 2 47799553 frameshift variant -/C ins 0.700 0
dbSNP: rs1558661368
rs1558661368
1 2 47799306 frameshift variant -/CAAA ins 0.700 0
dbSNP: rs1553333500
rs1553333500
1 2 47806526 frameshift variant -/CTTG delins 0.700 0
dbSNP: rs1553332768
rs1553332768
1 2 47805706 splice donor variant -/G delins 0.700 1.000 2 2008 2014
dbSNP: rs1553412755
rs1553412755
1 2 47799309 frameshift variant -/G delins 0.700 1.000 2 2008 2014
dbSNP: rs863225421
rs863225421
3 1.000 0.160 2 47798881 frameshift variant -/G delins 0.700 1.000 2 2010 2016
dbSNP: rs786201050
rs786201050
4 0.925 0.160 2 47800211 frameshift variant -/G delins 7.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs1553408136
rs1553408136
1 2 47783290 frameshift variant -/G delins 0.700 0
dbSNP: rs1553413673
rs1553413673
1 2 47800276 frameshift variant -/G delins 0.700 0
dbSNP: rs1553413784
rs1553413784
1 2 47800401 frameshift variant -/G delins 0.700 0
dbSNP: rs878853729
rs878853729
1 2 47801145 frameshift variant -/G delins 0.700 0
dbSNP: rs1558393070
rs1558393070
2 1.000 0.160 2 47806462 frameshift variant -/GAAAATGAATGTGA delins 0.700 1.000 5 2005 2013
dbSNP: rs1553412502
rs1553412502
1 2 47799084 stop gained -/GAAACTTTAGAATGGCTTAAGGAGGAAAAGAGAAGAGATGAGCACAGGAGGAGGCCTGATC delins 0.700 0
dbSNP: rs773262801
rs773262801
1 2 47805636 stop gained -/GAAT delins 4.0E-06 0.700 1.000 2 2008 2014
dbSNP: rs1553333605
rs1553333605
1 2 47806576 frameshift variant -/GAGA ins 0.700 1.000 5 2005 2013
dbSNP: rs878853742
rs878853742
1 2 47806579 frameshift variant -/GGAAGTTATTCAAAAGGGACATAGAAAAGCAAGAGAATTTG delins 0.700 1.000 5 2003 2011
dbSNP: rs1558394104
rs1558394104
1 2 47806579 stop gained -/GGAAGTTATTCAAAAGGGACATAGAAAAGCAAGAGAATTTGAGAAGATG delins 0.700 0
dbSNP: rs267608121
rs267608121
4 0.925 0.160 2 47806630 frameshift variant -/GTCA delins 0.700 1.000 7 2003 2015
dbSNP: rs760190301
rs760190301
3 1.000 0.160 2 47806582 frameshift variant -/GTTA delins 4.0E-06 0.700 1.000 8 1998 2017
dbSNP: rs63750955
rs63750955
4 0.925 0.160 2 47798633 frameshift variant -/T delins 1.4E-05 0.700 1.000 5 1991 2010