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: rs869312733
rs869312733
2 0.925 0.080 17 32940899 missense variant A/C snv 0.020 1.000 2 2015 2019
dbSNP: rs121912543
rs121912543
4 0.851 0.080 14 74259621 missense variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs1329285216
rs1329285216
2 0.925 0.080 10 93593997 missense variant A/T snv 0.700 1.000 1 2017 2017
dbSNP: rs200671094
rs200671094
4 0.851 0.080 14 53950508 missense variant G/A;T snv 1.2E-04; 4.0E-06 0.010 < 0.001 1 2009 2009
dbSNP: rs387907095
rs387907095
2 0.925 0.080 2 232523492 missense variant G/C snv 0.010 1.000 1 2011 2011
dbSNP: rs552445199
rs552445199
2 0.925 0.080 18 68711389 missense variant C/T snv 2.9E-05 1.4E-05 0.010 1.000 1 2010 2010
dbSNP: rs587777690
rs587777690
2 0.925 0.080 17 32940889 missense variant G/C;T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs755799430
rs755799430
2 0.925 0.080 14 74259689 missense variant G/A snv 8.0E-06 1.4E-05 0.700 1.000 1 2016 2016
dbSNP: rs80358194
rs80358194
2 0.925 0.080 1 47417035 stop gained C/A snv 1.6E-04 0.010 1.000 1 2010 2010
dbSNP: rs869025268
rs869025268
1 1.000 0.080 14 74239626 frameshift variant -/G delins 1.3E-05 0.700 1.000 1 2016 2016
dbSNP: rs1475762618
rs1475762618
1 1.000 0.080 22 45923167 missense variant G/A snv 0.700 0
dbSNP: rs374823079
rs374823079
1 1.000 0.080 11 119341673 missense variant G/A snv 8.5E-05 3.5E-05 0.700 0
dbSNP: rs377669670
rs377669670
2 0.925 0.080 1 47416547 missense variant G/A snv 3.6E-05 6.4E-05 0.700 0
dbSNP: rs755377651
rs755377651
2 0.925 0.080 1 47416625 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs869025221
rs869025221
5 0.925 0.080 3 25593603 missense variant G/C snv 0.700 0
dbSNP: rs397518483
rs397518483
9 0.851 0.120 3 25596428 missense variant C/A;T snv 0.020 1.000 2 2013 2016
dbSNP: rs1028344225
rs1028344225
3 0.925 0.120 3 25596566 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs193929392
rs193929392
4 0.851 0.120 X 11118574 missense variant G/A snv 0.010 1.000 1 2007 2007
dbSNP: rs1569119395
rs1569119395
2 0.925 0.120 22 45949926 stop gained G/A snv 0.700 0
dbSNP: rs370866589
rs370866589
7 0.851 0.120 14 69952261 stop gained C/G;T snv 4.0E-06; 1.6E-05 0.700 0
dbSNP: rs875989805
rs875989805
NHS
4 0.925 0.120 X 17687870 stop gained C/T snv 0.700 0
dbSNP: rs387907252
rs387907252
3 0.882 0.160 10 117134559 missense variant G/T snv 0.010 1.000 1 2012 2012
dbSNP: rs1243762658
rs1243762658
5 0.851 0.160 4 182754413 missense variant C/A;G snv 4.2E-06 7.0E-06 0.700 0
dbSNP: rs755000701
rs755000701
5 0.851 0.160 4 182799938 missense variant C/T snv 9.2E-06 1.4E-05 0.700 0
dbSNP: rs121434618
rs121434618
7 0.827 0.200 X 40075092 missense variant G/A;C snv 5.6E-06 0.030 1.000 3 2009 2019