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: rs1060503767
rs1060503767
1 1.000 0.080 1 17053997 frameshift variant AG/- delins 0.700 0
dbSNP: rs1131691061
rs1131691061
6 0.827 0.280 1 17054017 start lost C/T 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: rs1553177285
rs1553177285
1 1.000 0.080 1 17022676 stop gained T/A snv 0.700 0
dbSNP: rs1553177436
rs1553177436
3 0.925 0.080 1 17024007 frameshift variant C/- delins 0.700 0
dbSNP: rs1553177666
rs1553177666
1 1.000 0.080 1 17027736 splice donor variant GGACTAATGACCAG/- delins 0.700 0
dbSNP: rs1553177667
rs1553177667
1 1.000 0.080 1 17027748 splice donor variant C/T snv 0.700 0
dbSNP: rs1553177676
rs1553177676
3 0.925 0.080 1 17027784 stop gained G/A snv 0.700 0
dbSNP: rs1553177677
rs1553177677
1 1.000 0.080 1 17027787 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: rs1553178729
rs1553178729
1 1.000 0.080 1 17044771 frameshift variant C/- del 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: rs587781266
rs587781266
3 0.925 0.080 1 17022654 frameshift variant GAGA/- delins 0.700 0
dbSNP: rs587782617
rs587782617
4 0.925 0.080 1 17023999 frameshift variant ATTTGTCTCC/- del 0.700 0
dbSNP: rs786202732
rs786202732
5 0.882 0.080 1 17024041 missense variant A/G snv 0.700 0
dbSNP: rs786203506
rs786203506
4 0.925 0.080 1 17028649 stop gained G/A;C;T snv 0.700 0
dbSNP: rs876658367
rs876658367
4 0.882 0.080 1 17024028 missense variant C/T snv 0.700 0
dbSNP: rs878854572
rs878854572
3 0.925 0.080 1 17044835 frameshift variant A/- delins 0.700 0
dbSNP: rs878854576
rs878854576
2 1.000 0.080 1 17028727 missense variant C/T snv 0.700 0
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: rs1209914140
rs1209914140
3 0.925 0.080 1 17022687 frameshift variant -/CGCCTCTGTGAAG delins 4.0E-06 0.700 1.000 1 2013 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: 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