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: rs397508638
rs397508638
9 0.807 0.160 7 117652871 frameshift variant A/-;AA delins 0.100 0.875 16 1991 2019
dbSNP: rs193922525
rs193922525
1 1.000 0.120 7 117664770 missense variant G/A snv 0.840 1.000 4 1995 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: rs1396707015
rs1396707015
1 1.000 0.120 7 117535273 stop gained G/A snv 0.010 1.000 1 2003 2003
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: 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: 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: rs397508336
rs397508336
1 1.000 0.120 7 117592220 stop gained C/T snv 0.710 1.000 1 1994 1994
dbSNP: rs397508369
rs397508369
1 1.000 0.120 7 117592513 missense variant C/A;T snv 0.010 1.000 1 2002 2002
dbSNP: rs397508435
rs397508435
1 1.000 0.120 7 117603654 missense variant T/A;C snv 0.710 1.000 1 1994 2015
dbSNP: rs397508527
rs397508527
1 1.000 0.120 7 117611719 missense variant T/C snv 0.010 1.000 1 2000 2000
dbSNP: rs397508531
rs397508531
1 1.000 0.120 7 117611733 missense variant T/C snv 0.810 1.000 1 1990 2015
dbSNP: rs397508599
rs397508599
1 1.000 0.120 7 117642450 missense variant G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs397508635
rs397508635
1 0.925 0.160 7 117480132 missense variant C/A;T snv 0.810 1.000 1 1990 2015
dbSNP: rs397508718
rs397508718
1 0.925 0.160 7 117531070 stop gained G/A;T snv 0.710 1.000 1 2008 2012
dbSNP: rs397508731
rs397508731
1 1.000 0.120 7 117531109 missense variant A/G snv 0.010 < 0.001 1 2018 2018
dbSNP: rs397508786
rs397508786
1 1.000 0.120 7 117535381 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs76879328
rs76879328
1 1.000 0.120 7 117540305 missense variant C/A snv 0.710 1.000 1 1990 2018