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: 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: 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: 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: rs587782617
rs587782617
4 0.925 0.080 1 17023999 frameshift variant ATTTGTCTCC/- del 0.700 0
dbSNP: rs74315367
rs74315367
5 0.882 0.080 1 17024025 missense variant G/C snv 4.0E-06 0.700 0
dbSNP: rs74315369
rs74315369
5 0.851 0.080 1 17044882 stop gained G/A;C snv 8.0E-06; 4.4E-05 0.700 0
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: 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: rs794728947
rs794728947
4 0.925 0.080 1 17033135 frameshift variant -/G delins 4.0E-06 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: rs786201095
rs786201095
7 0.827 0.160 1 17028643 missense variant A/C snv 1.2E-05 0.700 1.000 17 2005 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 16 2003 2016
dbSNP: rs772551056
rs772551056
6 0.807 0.120 1 17044824 missense variant C/A;T snv 4.0E-06 0.700 1.000 11 2003 2016