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: 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
dbSNP: rs1557738304
rs1557738304
3 0.925 0.080 1 17018943 frameshift variant -/C delins 0.700 0
dbSNP: rs1557741425
rs1557741425
3 0.925 0.080 1 17028623 frameshift variant -/C delins 0.700 0
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: rs794728947
rs794728947
4 0.925 0.080 1 17033135 frameshift variant -/G delins 4.0E-06 0.700 0
dbSNP: rs878854572
rs878854572
3 0.925 0.080 1 17044835 frameshift variant A/- delins 0.700 0
dbSNP: rs786201095
rs786201095
7 0.827 0.160 1 17028643 missense variant A/C snv 1.2E-05 0.700 1.000 12 2005 2015
dbSNP: rs1060503763
rs1060503763
3 0.925 0.080 1 17027848 stop gained A/C snv 0.700 0
dbSNP: rs1557739966
rs1557739966
3 0.925 0.080 1 17024017 missense variant A/G snv 0.700 1.000 2 1982 2015
dbSNP: rs786202732
rs786202732
5 0.882 0.080 1 17024041 missense variant A/G snv 0.700 0
dbSNP: rs587781270
rs587781270
5 0.882 0.080 1 17033058 splice donor variant A/T snv 0.700 1.000 4 2006 2012
dbSNP: rs1060503751
rs1060503751
4 0.882 0.080 1 17028691 frameshift variant AG/- delins 0.700 1.000 1 2009 2009
dbSNP: rs1060503767
rs1060503767
1 1.000 0.080 1 17053997 frameshift variant AG/- delins 0.700 0
dbSNP: rs587782617
rs587782617
4 0.925 0.080 1 17023999 frameshift variant ATTTGTCTCC/- del 0.700 0
dbSNP: rs1553177436
rs1553177436
3 0.925 0.080 1 17024007 frameshift variant C/- delins 0.700 0
dbSNP: rs1553178729
rs1553178729
1 1.000 0.080 1 17044771 frameshift variant C/- del 0.700 0
dbSNP: rs267607032
rs267607032
5 0.882 0.080 1 17028605 missense variant C/A snv 1.2E-05 2.8E-05 0.700 1.000 11 2006 2015
dbSNP: rs772551056
rs772551056
9 0.807 0.120 1 17044824 missense variant C/A;T snv 4.0E-06 0.800 1.000 24 2003 2017
dbSNP: rs587782604
rs587782604
7 0.827 0.120 1 17022684 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.700 1.000 16 2003 2016
dbSNP: rs587782703
rs587782703
8 0.807 0.160 1 17053947 splice donor variant C/A;T snv 1.2E-05; 4.1E-06 0.700 1.000 10 2006 2013
dbSNP: rs397516836
rs397516836
5 0.882 0.080 1 17024015 stop gained C/A;T snv 0.700 1.000 8 2006 2012
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: rs397516833
rs397516833
5 0.882 0.080 1 17028737 splice acceptor variant C/G snv 0.700 1.000 7 2007 2016