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: rs747518441
rs747518441
2 1.000 0.080 1 17022723 missense variant C/A;T snv 4.0E-06; 8.0E-06 0.700 0
dbSNP: rs202101384
rs202101384
3 0.851 0.160 1 17044818 missense variant T/A snv 4.4E-05 1.4E-05 0.700 1.000 4 2012 2017
dbSNP: rs397516835
rs397516835
3 0.925 0.080 1 17024040 missense variant C/G;T snv 0.700 1.000 3 2002 2012
dbSNP: rs1557739966
rs1557739966
3 0.925 0.080 1 17024017 missense variant A/G snv 0.700 1.000 2 1982 2015
dbSNP: rs878854574
rs878854574
3 0.925 0.080 1 17033147 splice acceptor variant T/G snv 0.700 1.000 2 2009 2010
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: 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: 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: rs1553177436
rs1553177436
3 0.925 0.080 1 17024007 frameshift variant C/- delins 0.700 0
dbSNP: rs1553177676
rs1553177676
3 0.925 0.080 1 17027784 stop gained G/A snv 0.700 0
dbSNP: rs1553178726
rs1553178726
3 0.925 0.080 1 17044756 splice region variant C/G snv 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: rs876658713
rs876658713
3 0.925 0.080 1 17033125 missense variant T/G snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs878854572
rs878854572
3 0.925 0.080 1 17044835 frameshift variant A/- delins 0.700 0
dbSNP: rs786203251
rs786203251
4 0.882 0.080 1 17022649 missense variant G/A;T snv 0.700 1.000 10 1992 2013
dbSNP: rs786202100
rs786202100
4 0.925 0.080 1 17044791 frameshift variant GAGGT/- delins 0.700 1.000 6 2004 2014
dbSNP: rs751000085
rs751000085
4 0.882 0.080 1 17028680 stop gained G/A;C snv 8.0E-06 0.700 1.000 5 2006 2017
dbSNP: rs762812025
rs762812025
4 0.882 0.080 1 17022689 frameshift variant CT/- delins 4.0E-06 0.700 1.000 3 2004 2014