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: rs786201085
rs786201085
1 1 17022615 missense variant C/T snv 0.700 1.000 5 2005 2012
dbSNP: rs74315368
rs74315368
5 0.882 0.080 1 17022648 missense variant C/T snv 1.2E-05 1.4E-05 0.700 1.000 16 2004 2015
dbSNP: rs786203251
rs786203251
5 0.882 0.080 1 17022649 missense variant G/A;T snv 0.700 1.000 9 2004 2015
dbSNP: rs587781266
rs587781266
3 0.925 0.080 1 17022654 frameshift variant GAGA/- delins 0.700 1.000 3 2002 2007
dbSNP: rs1060503764
rs1060503764
4 0.925 0.080 1 17022655 frameshift variant -/A delins 0.700 1.000 3 2005 2009
dbSNP: rs876660642
rs876660642
1 1 17022660 frameshift variant A/- delins 4.0E-06 0.700 1.000 5 2005 2015
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
dbSNP: rs138996609
rs138996609
5 0.882 0.080 1 17022685 missense variant G/A snv 8.0E-06 7.0E-06 0.700 1.000 9 2003 2012
dbSNP: rs916516745
rs916516745
1 1 17022719 stop gained C/T snv 0.700 0
dbSNP: rs1553177290
rs1553177290
1 1 17022720 missense variant C/G snv 0.700 1.000 1 2006 2006
dbSNP: rs200245469
rs200245469
4 0.925 0.080 1 17022724 missense variant G/A;C snv 4.0E-06 0.700 1.000 6 2009 2016
dbSNP: rs1553177292
rs1553177292
1 1 17022731 splice acceptor variant C/T snv 0.700 0
dbSNP: rs876660368
rs876660368
1 1 17023967 splice donor variant CCTCACC/- del 0.700 0
dbSNP: rs1131691052
rs1131691052
2 1.000 0.080 1 17023972 splice donor variant C/G;T 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: rs876658461
rs876658461
7 0.827 0.200 1 17023975 stop gained G/A snv 0.700 1.000 2 2007 2009
dbSNP: rs1131691047
rs1131691047
1 1 17023976 frameshift variant C/- del 0.700 0
dbSNP: rs1228560456
rs1228560456
1 1 17023981 missense variant G/A;C snv 0.700 1.000 1 2005 2005
dbSNP: rs587782617
rs587782617
4 0.925 0.080 1 17023999 frameshift variant ATTTGTCTCC/- del 0.700 0
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: rs1131691059
rs1131691059
1 1 17024011 frameshift variant TCCACCAGTA/CC delins 0.700 0
dbSNP: rs397516836
rs397516836
5 0.882 0.080 1 17024015 stop gained C/A;T snv 0.700 1.000 13 2006 2018
dbSNP: rs1060503757
rs1060503757
5 0.882 0.080 1 17024024 frameshift variant G/- delins 0.700 1.000 3 2005 2009
dbSNP: rs74315367
rs74315367
5 0.882 0.080 1 17024025 missense variant G/C snv 4.0E-06 0.700 1.000 5 2001 2015