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: rs121909010
rs121909010
1 1.000 0.120 7 117652915 stop gained G/A snv 0.720 1.000 2 1991 1993
dbSNP: rs74767530
rs74767530
4 0.851 0.320 7 117627537 stop gained C/T snv 5.6E-05 4.9E-05 0.710 1.000 1 1993 1993
dbSNP: rs397508336
rs397508336
1 1.000 0.120 7 117592220 stop gained C/T snv 0.710 1.000 1 1994 1994
dbSNP: rs200901072
rs200901072
1 1.000 0.120 7 117603610 synonymous variant G/A;C;T snv 4.8E-05; 8.0E-06; 4.0E-06 0.010 < 0.001 1 1995 1995
dbSNP: rs397508467
rs397508467
1 1.000 0.120 7 117530921 missense variant C/T snv 8.0E-06 0.710 1.000 1 1996 1996
dbSNP: rs397508527
rs397508527
1 1.000 0.120 7 117611719 missense variant T/C snv 0.010 1.000 1 2000 2000
dbSNP: rs397508462
rs397508462
1 1.000 0.120 7 117606701 missense variant A/C;G;T snv 3.6E-05; 4.0E-06 0.730 1.000 3 1997 2001
dbSNP: rs397508369
rs397508369
1 1.000 0.120 7 117592513 missense variant C/A;T snv 0.010 1.000 1 2002 2002
dbSNP: rs1396707015
rs1396707015
1 1.000 0.120 7 117535273 stop gained G/A snv 0.010 1.000 1 2003 2003
dbSNP: rs397508323
rs397508323
1 1.000 0.120 7 117592133 stop gained G/C;T snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs397508725
rs397508725
1 1.000 0.120 7 117531098 missense variant G/A;C snv 7.2E-05; 2.0E-05 0.010 1.000 1 2003 2003
dbSNP: rs79660178
rs79660178
1 1.000 0.120 7 117530991 stop gained T/A snv 0.720 1.000 2 1997 2004
dbSNP: rs142920240
rs142920240
5 0.851 0.240 7 117540273 missense variant T/A snv 1.4E-04 7.0E-05 0.010 1.000 1 2004 2004
dbSNP: rs397508599
rs397508599
1 1.000 0.120 7 117642450 missense variant G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs397508778
rs397508778
1 0.851 0.160 7 117535326 stop gained C/T snv 4.0E-06 0.710 1.000 1 1994 2006
dbSNP: rs74571530
rs74571530
2 0.882 0.160 7 117559594 missense variant T/A;C;G snv 9.4E-04 0.020 1.000 2 1992 2008
dbSNP: rs146521846
rs146521846
2 0.925 0.120 7 117611794 missense variant C/G;T snv 4.0E-06; 1.2E-05 0.710 1.000 1 2009 2009
dbSNP: rs191456345
rs191456345
1 0.925 0.160 7 117536576 missense variant A/G snv 1.8E-04 1.1E-04 0.010 1.000 1 2009 2009
dbSNP: rs202179988
rs202179988
2 0.925 0.160 7 117611649 missense variant C/T snv 4.8E-05 2.8E-05 0.020 1.000 2 2008 2010
dbSNP: rs115545701
rs115545701
2 0.925 0.160 7 117509089 missense variant C/T snv 1.5E-03 4.3E-03 0.710 1.000 1 2010 2010
dbSNP: rs144745159
rs144745159
1 1.000 0.120 7 117587770 missense variant T/C snv 2.0E-05 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs150157202
rs150157202
2 0.925 0.120 7 117592427 missense variant G/A;T snv 1.8E-03 1.7E-03 0.710 1.000 1 1990 2010
dbSNP: rs397508185
rs397508185
2 0.925 0.120 7 117548684 missense variant A/G snv 2.8E-05 2.8E-05 0.010 1.000 1 2010 2010
dbSNP: rs397508188
rs397508188
1 1.000 0.120 7 117548753 missense variant T/C snv 4.1E-06 0.010 1.000 1 2010 2010
dbSNP: rs1800076
rs1800076
9 0.763 0.200 7 117509093 missense variant G/A;T snv 1.5E-02; 8.0E-06 0.020 1.000 2 1991 2011