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: rs132630322
rs132630322
NHS
1 1.000 0.120 X 17724370 stop gained C/T snv 0.700 1.000 3 2003 2014
dbSNP: rs104894881
rs104894881
NHS
1 1.000 0.120 X 17375872 stop gained C/T snv 0.700 0
dbSNP: rs1341004065
rs1341004065
NHS
1 1.000 0.120 X 17376034 stop gained G/A;T snv 0.700 0
dbSNP: rs1481421967
rs1481421967
NHS
1 1.000 0.120 X 17731956 missense variant C/G;T snv 5.5E-06 0.700 0
dbSNP: rs1556030707
rs1556030707
NHS
1 1.000 0.120 X 17687893 splice donor variant -/G delins 0.700 0
dbSNP: rs1556038355
rs1556038355
NHS
1 1.000 0.120 X 17725566 frameshift variant GACA/- delins 0.700 0
dbSNP: rs1556039901
rs1556039901
NHS
1 1.000 0.120 X 17728262 stop gained A/T snv 0.700 0
dbSNP: rs1569310232
rs1569310232
NHS
1 1.000 0.120 X 17692358 stop gained C/T snv 0.700 0
dbSNP: rs1569310288
rs1569310288
NHS
1 1.000 0.120 X 17692430 stop gained C/T snv 0.700 0
dbSNP: rs1569319773
rs1569319773
NHS
1 1.000 0.120 X 17726583 stop gained G/A snv 0.700 0
dbSNP: rs786205255
rs786205255
NHS
1 1.000 0.120 X 17726555 frameshift variant -/C delins 0.700 0
dbSNP: rs786205256
rs786205256
NHS
1 1.000 0.120 X 17727627 frameshift variant C/- delins 0.700 0
dbSNP: rs786205257
rs786205257
NHS
1 1.000 0.120 X 17721439 splice acceptor variant A/G snv 0.700 0
dbSNP: rs786205677
rs786205677
NHS
1 1.000 0.120 X 17692468 splice donor variant G/- delins 0.700 0
dbSNP: rs875989805
rs875989805
NHS
4 0.925 0.120 X 17687870 stop gained C/T snv 0.700 0
dbSNP: rs150688899
rs150688899
NHS
1 1.000 0.120 X 17725820 missense variant C/T snv 2.5E-02 6.4E-02 0.010 1.000 1 2011 2011
dbSNP: rs187739639
rs187739639
NHS
1 1.000 0.120 X 17725866 missense variant T/C snv 6.5E-04 1.0E-04 0.010 1.000 1 2014 2014
dbSNP: rs3747295
rs3747295
NHS
1 1.000 0.120 X 17728124 missense variant T/C snv 0.17 0.29 0.010 1.000 1 2011 2011
dbSNP: rs730880297
rs730880297
2 0.925 0.120 2 160126416 stop gained G/A snv 4.0E-05 2.1E-05 0.010 1.000 1 2014 2014
dbSNP: rs756852916
rs756852916
1 1.000 0.120 X 17635568 start lost T/A;C;G snv 9.0E-06; 1.8E-05 0.010 1.000 1 2017 2017