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: 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: rs113993959
rs113993959
8 0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04 0.800 1.000 14 1991 2018
dbSNP: rs74597325
rs74597325
3 0.708 0.320 7 117587811 stop gained C/G;T snv 6.8E-05 0.800 1.000 12 1990 2017
dbSNP: rs77010898
rs77010898
11 0.742 0.280 7 117642566 stop gained G/A;C snv 4.6E-04; 4.0E-06 0.800 1.000 11 1989 2019
dbSNP: rs121908751
rs121908751
1 0.925 0.160 7 117530899 stop gained G/A;T snv 4.0E-06 0.820 1.000 2 1990 2015
dbSNP: rs121909010
rs121909010
1 1.000 0.120 7 117652915 stop gained G/A snv 0.720 1.000 2 1991 1993
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: rs121908761
rs121908761
1 0.851 0.160 7 117611717 stop gained C/A;G snv 1.2E-05 0.710 1.000 1 1992 2013
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: rs374946172
rs374946172
1 0.925 0.160 7 117592520 stop gained C/T snv 1.1E-05 7.0E-06 0.710 1.000 1 2005 2014
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: 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: rs397508336
rs397508336
1 1.000 0.120 7 117592220 stop gained C/T snv 0.710 1.000 1 1994 1994
dbSNP: rs397508702
rs397508702
1 1.000 0.120 7 117665556 stop gained C/T snv 4.0E-06 0.710 1.000 1 2019 2019
dbSNP: rs397508718
rs397508718
1 0.925 0.160 7 117531070 stop gained G/A;T snv 0.710 1.000 1 2008 2012
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: 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: rs76649725
rs76649725
1 1.000 0.120 7 117642484 stop gained C/A;T snv 8.0E-06; 4.0E-06 0.710 1.000 1 1993 2016
dbSNP: rs77284892
rs77284892
1 0.851 0.160 7 117509047 stop gained G/A;T snv 2.4E-05 0.710 1.000 1 1992 2016
dbSNP: rs78802634
rs78802634
1 0.851 0.160 7 117611707 stop gained G/A snv 2.4E-05 0.710 1.000 1 1992 2019
dbSNP: rs79850223
rs79850223
1 0.851 0.160 7 117627525 stop gained C/T snv 3.2E-05 2.8E-05 0.710 1.000 1 1992 2013
dbSNP: rs75527207
rs75527207
12 0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04 0.900 0.980 69 1990 2020