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: rs1565930588
rs1565930588
19 0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del 0.700 1.000 3 2016 2018
dbSNP: rs121434591
rs121434591
5 1.000 5 139307669 missense variant C/G snv 0.020 1.000 2 2014 2017
dbSNP: rs116840789
rs116840789
6 0.925 0.080 3 8745547 missense variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs121908457
rs121908457
13 0.882 0.120 5 137870815 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs121908458
rs121908458
4 0.882 0.120 5 137870830 missense variant C/G;T snv 3.6E-05 0.010 1.000 1 2009 2009
dbSNP: rs121913627
rs121913627
8 0.851 0.080 14 23427657 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs121913647
rs121913647
4 0.925 0.160 14 23417173 missense variant C/A;G;T snv 1.6E-05 0.010 1.000 1 2010 2010
dbSNP: rs121913653
rs121913653
3 0.925 0.160 14 23429040 missense variant G/A snv 2.3E-04 7.0E-05 0.010 1.000 1 2020 2020
dbSNP: rs150516929
rs150516929
8 0.807 0.240 11 111908832 missense variant C/T snv 9.1E-04 8.7E-04 0.010 1.000 1 2010 2010
dbSNP: rs387906587
rs387906587
3 1.000 7 128835550 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs45544633
rs45544633
4 1.000 0.080 14 23417174 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs553628577
rs553628577
1 19 50286566 missense variant C/T snv 4.2E-06 0.010 1.000 1 2010 2010
dbSNP: rs573899913
rs573899913
1 7 128850448 missense variant T/G snv 9.2E-05 2.1E-05 0.010 1.000 1 2017 2017
dbSNP: rs751755895
rs751755895
1 2 178741618 missense variant C/A snv 1.2E-05 3.5E-05 0.010 1.000 1 2017 2017
dbSNP: rs757082154
rs757082154
9 1.000 0.120 2 178527491 stop gained G/A snv 1.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs764434631
rs764434631
1 2 178740904 missense variant C/A snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs768941858
rs768941858
2 1.000 0.080 7 128854900 missense variant G/A snv 4.0E-05 2.8E-05 0.010 1.000 1 2019 2019
dbSNP: rs869312739
rs869312739
2 1.000 1 229432295 missense variant C/A snv 0.010 1.000 1 2019 2019