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: rs45544633
rs45544633
3 1.000 0.080 14 23417174 missense variant G/A snv 0.700 1.000 11 2004 2015
dbSNP: rs121913642
rs121913642
3 0.925 0.080 14 23427879 missense variant A/G snv 0.700 1.000 6 1989 2013
dbSNP: rs397516165
rs397516165
4 0.925 0.080 14 23424118 missense variant C/G;T snv 0.700 1.000 5 2011 2017
dbSNP: rs727503253
rs727503253
2 1.000 0.040 14 23424119 missense variant G/A snv 4.0E-06 0.700 1.000 5 2011 2017
dbSNP: rs397516089
rs397516089
4 0.827 0.080 14 23429807 missense variant C/G;T snv 0.700 1.000 4 2009 2017
dbSNP: rs397516248
rs397516248
5 0.851 0.200 14 23415153 missense variant C/T snv 0.700 1.000 4 2009 2015
dbSNP: rs397516254
rs397516254
3 0.925 0.160 14 23413809 missense variant C/T snv 0.700 1.000 4 2012 2017
dbSNP: rs727503254
rs727503254
1 14 23424770 missense variant G/A;T snv 0.700 1.000 3 2012 2017
dbSNP: rs397516142
rs397516142
3 1.000 0.080 14 23425357 missense variant C/A;G;T snv 8.0E-06; 1.6E-05 0.700 1.000 2 2011 2017
dbSNP: rs606231324
rs606231324
5 0.851 0.080 14 23428505 missense variant C/G;T snv 0.700 1.000 2 2012 2017
dbSNP: rs727503258
rs727503258
1 14 23425358 missense variant G/A;C snv 4.0E-06 0.700 1.000 2 2011 2017
dbSNP: rs397516258
rs397516258
1 1.000 0.040 14 23431798 missense variant A/G;T snv 0.700 1.000 1 2005 2005
dbSNP: rs45516091
rs45516091
2 14 23431608 missense variant G/A snv 1.2E-05 7.0E-06 0.700 1.000 1 2008 2008
dbSNP: rs121913647
rs121913647
3 0.925 0.160 14 23417173 missense variant C/A;G;T snv 1.6E-05 0.700 0
dbSNP: rs1555338080
rs1555338080
1 14 23427274 missense variant C/G snv 0.700 0
dbSNP: rs377491278
rs377491278
1 14 23427773 missense variant C/T snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs397516122
rs397516122
1 14 23427682 missense variant G/T snv 0.700 0
dbSNP: rs397516123
rs397516123
1 14 23427675 missense variant G/A snv 0.700 0
dbSNP: rs397516224
rs397516224
1 14 23432684 frameshift variant G/- delins 4.0E-06 0.700 0
dbSNP: rs397516252
rs397516252
1 14 23413832 missense variant G/C snv 0.700 0
dbSNP: rs397516253
rs397516253
1 14 23413823 missense variant C/G;T snv 1.2E-05 0.700 0
dbSNP: rs727503265
rs727503265
1 14 23427889 missense variant C/T snv 0.700 0
dbSNP: rs760187215
rs760187215
6 1.000 0.040 14 23431859 missense variant C/T snv 8.0E-06 0.700 0
dbSNP: rs869025483
rs869025483
1 14 23413805 protein altering variant GACT/A delins 0.700 0