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 1.000 3 2005 2009
dbSNP: rs794728947
rs794728947
4 0.925 0.080 1 17033135 frameshift variant -/G delins 4.0E-06 0.700 1.000 1 2002 2002
dbSNP: rs1553179337
rs1553179337
1 1 17053977 stop gained -/GCAACCGGCGCCTCAAGGAGAGGGCG delins 0.700 1.000 1 2013 2013
dbSNP: rs1131691050
rs1131691050
1 1 17024005 frameshift variant -/GTTCC delins 0.700 0
dbSNP: rs1131691053
rs1131691053
1 1 17024009 frameshift variant -/T delins 0.700 0
dbSNP: rs1131691057
rs1131691057
1 1 17053948 frameshift variant -/T delins 0.700 0
dbSNP: rs876660642
rs876660642
1 1 17022660 frameshift variant A/- delins 4.0E-06 0.700 1.000 5 2005 2015
dbSNP: rs786201095
rs786201095
7 0.827 0.160 1 17028643 missense variant A/C snv 1.2E-05 0.700 1.000 7 2005 2017
dbSNP: rs786202732
rs786202732
5 0.882 0.080 1 17024041 missense variant A/G snv 0.700 1.000 12 1995 2018
dbSNP: rs727503415
rs727503415
2 1.000 0.080 1 17033069 missense variant A/G snv 0.700 1.000 4 2007 2012
dbSNP: rs876659329
rs876659329
2 1.000 0.040 1 17044767 missense variant A/G;T snv 0.700 1.000 2 2003 2015
dbSNP: rs587781270
rs587781270
5 0.882 0.080 1 17033058 splice donor variant A/T snv 0.700 1.000 3 2006 2012
dbSNP: rs786203800
rs786203800
2 1.000 0.080 1 17053994 stop gained A/T snv 0.700 1.000 1 2015 2015
dbSNP: rs587782617
rs587782617
4 0.925 0.080 1 17023999 frameshift variant ATTTGTCTCC/- del 0.700 0
dbSNP: rs1131691047
rs1131691047
1 1 17023976 frameshift variant C/- del 0.700 0
dbSNP: rs794728949
rs794728949
1 1 17027808 frameshift variant C/- delins 0.700 0
dbSNP: rs876659491
rs876659491
1 1 17027847 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 12 2008 2018
dbSNP: rs876658540
rs876658540
2 1.000 0.080 1 17024049 missense variant C/A snv 0.700 1.000 1 2012 2012
dbSNP: rs1131691054
rs1131691054
1 1 17033068 missense variant C/A snv 0.700 0
dbSNP: rs794728946
rs794728946
2 1.000 0.080 1 17027763 stop gained C/A;G snv 0.700 0
dbSNP: rs1278834014
rs1278834014
1 1 17023973 missense variant C/A;G;T snv 0.700 1.000 2 2006 2015
dbSNP: rs772551056
rs772551056
9 0.807 0.120 1 17044824 missense variant C/A;T snv 4.0E-06 0.700 1.000 14 2002 2018
dbSNP: rs397516836
rs397516836
5 0.882 0.080 1 17024015 stop gained C/A;T snv 0.700 1.000 13 2006 2018
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 13 2005 2017