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: rs121913625
rs121913625
4 0.851 0.080 14 23429005 missense variant G/A;C;T snv 0.700 1.000 19 1992 2014
dbSNP: rs121913632
rs121913632
3 0.882 0.080 14 23425760 missense variant C/A;G;T snv 0.700 1.000 19 1985 2017
dbSNP: rs121913631
rs121913631
3 0.882 0.080 14 23424107 missense variant G/C snv 1.4E-05 0.700 1.000 17 1992 2017
dbSNP: rs121913624
rs121913624
4 0.851 0.080 14 23429278 missense variant C/A;G;T snv 0.710 1.000 14 1990 2018
dbSNP: rs397516127
rs397516127
9 0.763 0.160 14 23426834 missense variant G/A;C snv 0.700 1.000 14 1999 2019
dbSNP: rs121913638
rs121913638
4 0.851 0.120 14 23425980 missense variant C/T snv 0.700 1.000 13 1994 2017
dbSNP: rs121913641
rs121913641
3 0.882 0.080 14 23425970 missense variant C/G;T snv 0.700 1.000 13 1994 2013
dbSNP: rs397516353
rs397516353
3 0.882 0.080 19 55154109 missense variant G/A snv 0.700 1.000 12 2003 2017
dbSNP: rs397515937
rs397515937
4 0.851 0.080 11 47339792 splice acceptor variant T/C snv 0.700 1.000 11 1995 2014
dbSNP: rs397515963
rs397515963
4 0.851 0.080 11 47337729 frameshift variant -/C delins 2.1E-05 0.700 1.000 11 1998 2015
dbSNP: rs397516347
rs397516347
5 0.851 0.120 19 55154157 missense variant C/T snv 4.2E-05 0.700 1.000 11 2003 2017
dbSNP: rs104894729
rs104894729
5 0.827 0.080 19 55151892 missense variant C/A;G;T snv 0.700 1.000 10 2003 2015
dbSNP: rs121913637
rs121913637
3 0.882 0.080 14 23425971 missense variant G/A snv 7.0E-06 0.700 1.000 10 1994 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: rs199476315
rs199476315
5 0.827 0.080 15 63061723 missense variant G/A snv 0.700 1.000 9 2003 2016
dbSNP: rs397516088
rs397516088
4 0.882 0.080 14 23429850 missense variant C/G;T snv 0.700 1.000 9 2003 2019
dbSNP: rs727503166
rs727503166
5 0.851 0.080 11 47332110 frameshift variant T/- del 0.700 1.000 9 2008 2017
dbSNP: rs121913628
rs121913628
10 0.763 0.160 14 23424059 missense variant C/G;T snv 0.700 1.000 8 1992 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: rs3218714
rs3218714
9 0.763 0.160 14 23429279 missense variant G/A;C snv 0.700 1.000 8 1990 2013
dbSNP: rs45544633
rs45544633
4 1.000 0.080 14 23417174 missense variant G/A snv 0.700 1.000 8 2004 2013
dbSNP: rs727503260
rs727503260
4 0.851 0.080 14 23425403 missense variant C/G;T snv 0.700 1.000 8 2003 2017
dbSNP: rs199476317
rs199476317
6 0.827 0.080 15 63062263 missense variant G/A snv 0.700 1.000 7 2010 2017
dbSNP: rs397515990
rs397515990
4 0.851 0.080 11 47335082 frameshift variant AG/- del 7.0E-06 0.700 1.000 7 1998 2011
dbSNP: rs397516248
rs397516248
6 0.851 0.200 14 23415153 missense variant C/T snv 0.700 1.000 7 2009 2017