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: rs587781270
rs587781270
5 0.882 0.080 1 17033058 splice donor variant A/T snv 0.700 1.000 4 2006 2012
dbSNP: rs397516835
rs397516835
4 0.925 0.080 1 17024040 missense variant C/G;T snv 0.700 1.000 3 2002 2012
dbSNP: rs587782243
rs587782243
5 0.882 0.080 1 17033060 missense variant C/T snv 1.2E-05 7.0E-06 0.700 1.000 3 1990 2013
dbSNP: rs762812025
rs762812025
4 0.882 0.080 1 17022689 frameshift variant CT/- delins 4.0E-06 0.700 1.000 3 2004 2014
dbSNP: rs1131691055
rs1131691055
4 0.925 0.080 1 17044889 splice acceptor variant C/A;T snv 0.700 1.000 2 2009 2010
dbSNP: rs1557739966
rs1557739966
3 0.925 0.080 1 17024017 missense variant A/G snv 0.700 1.000 2 1982 2015
dbSNP: rs200245469
rs200245469
4 0.925 0.080 1 17022724 missense variant G/A;C snv 4.0E-06 0.700 1.000 2 2009 2010
dbSNP: rs587776652
rs587776652
4 0.882 0.200 1 161314408 start lost G/A snv 0.700 1.000 2 2000 2012
dbSNP: rs786202200
rs786202200
3 1.000 0.080 1 161328395 splice acceptor variant G/A;T snv 7.0E-06 0.700 1.000 2 2009 2014
dbSNP: rs876658461
rs876658461
7 0.827 0.200 1 17023975 stop gained G/A snv 0.700 1.000 2 2007 2009
dbSNP: rs878854574
rs878854574
3 0.925 0.080 1 17033147 splice acceptor variant T/G snv 0.700 1.000 2 2009 2010
dbSNP: rs1060503751
rs1060503751
4 0.882 0.080 1 17028691 frameshift variant AG/- delins 0.700 1.000 1 2009 2009
dbSNP: rs1209914140
rs1209914140
3 0.925 0.080 1 17022687 frameshift variant -/CGCCTCTGTGAAG delins 4.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs1553177678
rs1553177678
3 0.925 0.080 1 17027798 frameshift variant T/- del 0.700 1.000 1 2013 2013
dbSNP: rs398123690
rs398123690
4 0.925 0.080 1 17044849 frameshift variant G/-;GGG delins 0.700 1.000 1 2015 2015
dbSNP: rs786201316
rs786201316
4 0.925 0.080 1 17028712 frameshift variant T/CC delins 0.700 1.000 1 2006 2006
dbSNP: rs878854575
rs878854575
4 0.882 0.080 1 17033075 stop gained T/A snv 0.700 1.000 1 2009 2009
dbSNP: rs1060503752
rs1060503752
3 0.925 0.080 1 17023994 frameshift variant CA/- del 0.700 0
dbSNP: rs1060503753
rs1060503753
3 0.925 0.080 1 17027790 stop gained T/A snv 0.700 0
dbSNP: rs1060503759
rs1060503759
3 0.925 0.080 1 17024013 stop gained C/T snv 0.700 0
dbSNP: rs1060503762
rs1060503762
3 0.925 0.080 1 17044820 stop gained C/T snv 0.700 0
dbSNP: rs1060503763
rs1060503763
3 0.925 0.080 1 17027848 stop gained A/C snv 0.700 0
dbSNP: rs1060503764
rs1060503764
4 0.925 0.080 1 17022655 frameshift variant -/A delins 0.700 0
dbSNP: rs1553176976
rs1553176976
3 0.925 0.080 1 17018936 frameshift variant -/AGCT delins 0.700 0
dbSNP: rs1553176979
rs1553176979
3 0.925 0.080 1 17018938 frameshift variant -/C ins 0.700 0