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: rs104894724
rs104894724
8 0.790 0.120 19 55154146 missense variant G/A;C snv 4.0E-06 0.740 1.000 30 1997 2016
dbSNP: rs104894729
rs104894729
5 0.827 0.080 19 55151892 missense variant C/A;G;T snv 0.710 1.000 13 2003 2013
dbSNP: rs397516357
rs397516357
5 0.851 0.120 19 55151910 missense variant C/T snv 7.0E-06 0.710 0.909 11 2003 2017
dbSNP: rs727503503
rs727503503
5 0.827 0.120 19 55154070 missense variant C/T snv 0.710 1.000 3 2007 2016
dbSNP: rs397516354
rs397516354
8 0.790 0.120 19 55154094 missense variant C/A;G;T snv 4.0E-05 0.700 1.000 22 1997 2017
dbSNP: rs397516347
rs397516347
5 0.851 0.120 19 55154157 missense variant C/T snv 4.2E-05 0.700 1.000 11 2003 2014
dbSNP: rs368861241
rs368861241
4 0.851 0.120 19 55154095 missense variant G/A snv 4.0E-05 7.0E-06 0.700 1.000 9 1997 2014
dbSNP: rs727504275
rs727504275
2 0.925 0.040 19 55151856 missense variant C/A;T snv 4.0E-06 0.700 1.000 5 2005 2010
dbSNP: rs104894727
rs104894727
4 0.882 0.080 19 55151881 missense variant C/A;T snv 4.0E-06 0.700 1.000 4 2002 2016
dbSNP: rs397516349
rs397516349
6 0.807 0.080 19 55154145 missense variant C/T snv 1.6E-05 0.700 1.000 4 1988 2004
dbSNP: rs397516353
rs397516353
3 0.882 0.080 19 55154109 missense variant G/A snv 0.700 1.000 4 2003 2009
dbSNP: rs397516351
rs397516351
2 0.925 0.080 19 55154045 inframe deletion TTC/- delins 0.700 1.000 2 2003 2008
dbSNP: rs727503500
rs727503500
1 1.000 0.040 19 55151899 missense variant C/A snv 0.700 1.000 1 2003 2003
dbSNP: rs727504365
rs727504365
1 1.000 0.040 19 55151865 missense variant A/G snv 0.700 1.000 1 2011 2011
dbSNP: rs121917760
rs121917760
2 0.925 0.040 19 55154148 missense variant A/G;T snv 0.700 0
dbSNP: rs397516340
rs397516340
1 1.000 0.040 19 55157309 splice acceptor variant C/A snv 8.3E-06 0.700 0
dbSNP: rs397516341
rs397516341
1 1.000 0.040 19 55157589 start lost T/C snv 0.700 0
dbSNP: rs727503504
rs727503504
6 0.807 0.080 19 55154071 missense variant G/A;C snv 0.700 0
dbSNP: rs727504243
rs727504243
1 1.000 0.040 19 55151857 missense variant G/A;T snv 7.0E-06 0.700 0
dbSNP: rs267607128
rs267607128
3 0.882 0.040 19 55157097 missense variant G/A snv 0.030 1.000 3 2012 2016
dbSNP: rs77615401
rs77615401
2 0.925 0.040 19 55156239 missense variant G/A snv 1.4E-03 6.8E-03 0.030 1.000 3 2008 2016
dbSNP: rs104894725
rs104894725
3 0.882 0.080 19 55151851 missense variant T/C;G snv 0.010 1.000 1 1997 1997
dbSNP: rs1454735927
rs1454735927
1 1.000 0.040 19 55154043 frameshift variant T/- del 0.010 1.000 1 2014 2014
dbSNP: rs730881082
rs730881082
2 0.925 0.040 19 55151850 missense variant T/A snv 0.010 1.000 1 2015 2015