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: rs193922525
rs193922525
1 1.000 0.120 7 117664770 missense variant G/A snv 0.840 1.000 4 1995 2017
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: rs75389940
rs75389940
3 0.882 0.120 7 117627753 missense variant A/G snv 4.0E-06 0.830 1.000 3 2001 2017
dbSNP: rs121909010
rs121909010
1 1.000 0.120 7 117652915 stop gained G/A snv 0.720 1.000 2 1991 1993
dbSNP: rs397508453
rs397508453
1 1.000 0.120 7 117603782 missense variant G/A;C snv 0.720 1.000 2 1993 2018
dbSNP: rs397508538
rs397508538
1 1.000 0.120 7 117611751 stop gained G/T snv 0.720 1.000 2 1995 2013
dbSNP: rs79660178
rs79660178
1 1.000 0.120 7 117530991 stop gained T/A snv 0.720 1.000 2 1997 2004
dbSNP: rs1057516619
rs1057516619
1 1.000 0.120 7 117536669 stop gained A/T snv 0.710 < 0.001 1 2017 2017
dbSNP: rs121909034
rs121909034
1 1.000 0.120 7 117603609 stop gained C/A;T snv 1.1E-03 0.710 1.000 1 1993 2015
dbSNP: rs1396707015
rs1396707015
1 1.000 0.120 7 117535273 stop gained G/A snv 0.010 1.000 1 2003 2003
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: 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: rs149353983
rs149353983
1 1.000 0.120 7 117504291 missense variant G/A;T snv 5.6E-05; 3.2E-05 0.710 1.000 1 1995 2015
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: rs17140229
rs17140229
1 1.000 0.120 7 117590229 intron variant T/C snv 9.9E-02 0.010 1.000 1 2013 2013
dbSNP: rs1800080
rs1800080
2 0.925 0.120 7 117534330 missense variant A/G snv 0.010 1.000 1 2016 2016
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: 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: rs397508195
rs397508195
1 1.000 0.120 7 117548797 missense variant G/C;T snv 0.710 1.000 1 1990 2015
dbSNP: rs397508198
rs397508198
1 1.000 0.120 7 117548823 missense variant G/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs397508211
rs397508211
1 1.000 0.120 7 117559537 stop gained C/A;T snv 4.0E-06 0.710 1.000 1 2004 2013
dbSNP: rs397508282
rs397508282
1 1.000 0.120 7 117590387 missense variant G/A snv 0.710 1.000 1 1990 2017
dbSNP: rs397508310
rs397508310
1 1.000 0.120 7 117591993 missense variant A/G;T snv 0.710 1.000 1 2002 2017
dbSNP: rs397508316
rs397508316
1 1.000 0.120 7 117592049 missense variant G/A;C snv 4.1E-06 0.810 1.000 1 1990 2015