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: rs397516089
rs397516089
6 0.827 0.080 14 23429807 missense variant C/G;T snv 0.700 1.000 4 2009 2015
dbSNP: rs397516155
rs397516155
3 0.882 0.080 14 23424907 inframe deletion TCT/- delins 0.700 1.000 4 2009 2017
dbSNP: rs193922390
rs193922390
3 0.882 0.080 14 23415651 missense variant C/G;T snv 4.0E-06; 2.0E-05 0.700 1.000 8 2008 2017
dbSNP: rs397516178
rs397516178
1 1.000 0.080 14 23422291 missense variant C/A;G;T snv 1.6E-05; 3.6E-05 0.700 1.000 7 2008 2017
dbSNP: rs45611033
rs45611033
2 0.925 0.080 14 23422292 missense variant G/A snv 2.4E-05 2.8E-05 0.700 1.000 7 2008 2017
dbSNP: rs397516265
rs397516265
2 0.925 0.080 14 23431590 missense variant G/A snv 7.0E-06 0.700 1.000 5 2008 2017
dbSNP: rs267606910
rs267606910
6 0.807 0.080 14 23431589 missense variant C/T snv 8.0E-06 0.700 1.000 4 2008 2011
dbSNP: rs397516171
rs397516171
9 0.763 0.160 14 23424041 missense variant C/G;T snv 0.700 1.000 4 2008 2017
dbSNP: rs148808089
rs148808089
4 0.882 0.080 14 23429038 missense variant G/A snv 2.0E-05 1.4E-05 0.700 1.000 7 2006 2017
dbSNP: rs758891557
rs758891557
1 1.000 0.080 14 23424854 missense variant T/A;C snv 4.0E-06 7.0E-06 0.700 1.000 5 2006 2017
dbSNP: rs121913650
rs121913650
2 0.925 0.080 14 23415652 missense variant G/A snv 7.0E-06 0.700 1.000 8 2005 2017
dbSNP: rs727504238
rs727504238
3 0.882 0.080 14 23427746 missense variant T/C snv 1.6E-05 2.1E-05 0.700 1.000 7 2005 2017
dbSNP: rs267606911
rs267606911
3 0.882 0.080 14 23428587 missense variant C/A snv 8.0E-06 0.700 1.000 5 2005 2015
dbSNP: rs202141173
rs202141173
3 0.882 0.080 14 23424842 missense variant C/T snv 2.4E-05 9.1E-05 0.700 1.000 16 2004 2019
dbSNP: rs2754158
rs2754158
4 0.882 0.080 14 23424876 missense variant G/A;C;T snv 1.2E-05 0.700 1.000 8 2004 2017
dbSNP: rs45544633
rs45544633
4 1.000 0.080 14 23417174 missense variant G/A snv 0.700 1.000 8 2004 2013
dbSNP: rs121913647
rs121913647
4 0.925 0.160 14 23417173 missense variant C/A;G;T snv 1.6E-05 0.700 1.000 7 2004 2013
dbSNP: rs587782962
rs587782962
2 0.925 0.080 14 23422267 missense variant C/T snv 6.4E-05 7.7E-05 0.700 1.000 7 2004 2017
dbSNP: rs397516161
rs397516161
3 0.882 0.080 14 23424148 missense variant T/A;C snv 4.0E-06 0.700 1.000 6 2004 2017
dbSNP: rs727503246
rs727503246
4 0.882 0.080 14 23418313 missense variant C/T snv 7.0E-06 0.700 1.000 6 2004 2013
dbSNP: rs730880855
rs730880855
2 0.925 0.080 14 23431425 missense variant T/C snv 0.700 1.000 1 2004 2004
dbSNP: rs397516201
rs397516201
3 0.882 0.080 14 23418249 missense variant G/A snv 4.0E-06 1.4E-05 0.700 1.000 12 2003 2017
dbSNP: rs727503261
rs727503261
3 0.882 0.080 14 23425774 missense variant A/G;T snv 0.700 1.000 10 2003 2015
dbSNP: rs397516088
rs397516088
4 0.882 0.080 14 23429850 missense variant C/G;T snv 0.700 1.000 9 2003 2019
dbSNP: rs397516260
rs397516260
4 0.882 0.080 14 23431789 missense variant C/A;T snv 1.6E-05 0.700 1.000 8 2003 2017