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: rs121913647
rs121913647
4 0.925 0.160 14 23417173 missense variant C/A;G;T snv 1.6E-05 0.800 1.000 2 2004 2007
dbSNP: rs121913653
rs121913653
3 0.925 0.160 14 23429040 missense variant G/A snv 2.3E-04 7.0E-05 0.800 1.000 2 2004 2007
dbSNP: rs397516248
rs397516248
6 0.851 0.200 14 23415153 missense variant C/T snv 0.710 1.000 2 2009 2015
dbSNP: rs797044599
rs797044599
1 1.000 0.120 14 23417541 missense variant C/G snv 0.710 1.000 1 2013 2013
dbSNP: rs797044602
rs797044602
1 1.000 0.120 14 23415669 missense variant A/G snv 0.710 1.000 1 2012 2012
dbSNP: rs371898076
rs371898076
9 0.763 0.160 14 23426833 missense variant C/T snv 8.0E-06 4.9E-05 0.700 1.000 5 1999 2014
dbSNP: rs121913648
rs121913648
2 0.925 0.160 14 23416105 inframe deletion TTC/- delins 0.700 1.000 4 2000 2014
dbSNP: rs397516220
rs397516220
2 0.925 0.160 14 23416988 splice acceptor variant CTC/- delins 0.700 1.000 3 2004 2011
dbSNP: rs121913628
rs121913628
10 0.763 0.160 14 23424059 missense variant C/G;T snv 0.700 0
dbSNP: rs1566521710
rs1566521710
1 1.000 0.120 14 23414104 splice acceptor variant T/G snv 0.700 0
dbSNP: rs267606908
rs267606908
9 0.763 0.160 14 23424112 missense variant T/C snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs3218713
rs3218713
10 0.763 0.160 14 23431468 missense variant C/A;T snv 0.700 0
dbSNP: rs3218714
rs3218714
9 0.763 0.160 14 23429279 missense variant G/A;C snv 0.700 0
dbSNP: rs3218716
rs3218716
17 0.716 0.280 14 23425316 missense variant C/A;G;T snv 4.0E-06; 2.4E-05 0.700 0
dbSNP: rs367543052
rs367543052
4 0.882 0.160 14 23415476 inframe deletion TCT/-;TCTTCT delins 0.700 0
dbSNP: rs370328209
rs370328209
1 1.000 0.120 14 23415801 missense variant C/A;G;T snv 4.0E-06; 6.0E-05 0.700 0
dbSNP: rs397516127
rs397516127
9 0.763 0.160 14 23426834 missense variant G/A;C snv 0.700 0
dbSNP: rs397516171
rs397516171
9 0.763 0.160 14 23424041 missense variant C/G;T snv 0.700 0
dbSNP: rs397516254
rs397516254
3 0.925 0.160 14 23413809 missense variant C/T snv 0.700 0
dbSNP: rs397516264
rs397516264
9 0.763 0.160 14 23431602 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs587779389
rs587779389
1 1.000 0.120 14 23416890 missense variant T/G snv 0.700 0
dbSNP: rs587779390
rs587779390
1 1.000 0.120 14 23416162 missense variant T/G snv 0.700 0
dbSNP: rs587779391
rs587779391
1 1.000 0.120 14 23416134 missense variant C/A;G;T snv 4.0E-06; 8.0E-06 0.700 0
dbSNP: rs587779393
rs587779393
1 1.000 0.120 14 23416020 missense variant A/G snv 0.700 0
dbSNP: rs587779396
rs587779396
2 0.925 0.160 14 23415174 inframe deletion CAG/- delins 0.700 0