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: rs386833556
rs386833556
1 1.000 0.120 9 6553457 missense variant G/A;C snv 8.0E-06 0.810 1.000 8 1991 2019
dbSNP: rs772871471
rs772871471
1 1.000 0.120 9 6587249 missense variant G/C snv 1.6E-05 0.810 1.000 7 1991 2019
dbSNP: rs121964976
rs121964976
3 0.882 0.160 9 6589230 missense variant C/G;T snv 8.7E-05; 2.3E-02 0.800 1.000 13 1991 2017
dbSNP: rs386833589
rs386833589
1 1.000 0.120 9 6605145 missense variant C/G snv 4.0E-06 2.1E-05 0.800 1.000 8 1991 2017
dbSNP: rs121964974
rs121964974
1 1.000 0.120 9 6588417 missense variant C/A snv 2.1E-04 1.5E-04 0.800 1.000 6 1991 2017
dbSNP: rs150171524
rs150171524
1 1.000 0.120 9 6602147 missense variant G/A;C snv 1.2E-05; 4.0E-06 0.800 1.000 6 1991 2017
dbSNP: rs386833583
rs386833583
3 0.882 0.200 9 6610222 missense variant G/A snv 0.720 1.000 2 2011 2018
dbSNP: rs121964977
rs121964977
1 1.000 0.120 9 6553420 missense variant G/A snv 8.0E-06 1.4E-05 0.710 1.000 1 2004 2004
dbSNP: rs386833565
rs386833565
1 1.000 0.120 9 6540109 synonymous variant G/T snv 8.4E-05 8.4E-05 0.710 1.000 1 2005 2005
dbSNP: rs121964979
rs121964979
2 0.925 0.160 9 6595109 missense variant G/A;T snv 2.8E-05; 4.0E-06 0.700 1.000 6 2004 2017
dbSNP: rs1554648117
rs1554648117
1 1.000 0.120 9 6605193 missense variant G/C snv 0.700 1.000 6 1991 2017
dbSNP: rs761957837
rs761957837
1 1.000 0.120 9 6592871 missense variant G/A snv 8.0E-06 0.700 1.000 6 1991 2017
dbSNP: rs774093619
rs774093619
1 1.000 0.120 9 6602138 missense variant T/C;G snv 4.0E-06 0.700 1.000 6 1991 2017
dbSNP: rs386833553
rs386833553
1 1.000 0.120 9 6554673 missense variant C/T snv 3.5E-05 0.700 1.000 5 2006 2015
dbSNP: rs386833517
rs386833517
1 1.000 0.120 9 6604637 stop gained G/A;C snv 1.6E-05; 4.0E-06 0.700 1.000 4 2006 2017
dbSNP: rs386833524
rs386833524
1 1.000 0.120 9 6592870 missense variant C/T snv 8.0E-06 7.0E-06 0.700 1.000 4 2006 2017
dbSNP: rs386833554
rs386833554
1 1.000 0.120 9 6553510 splice acceptor variant C/T snv 3.2E-05 0.700 1.000 4 2006 2017
dbSNP: rs386833587
rs386833587
1 1.000 0.120 9 6605186 missense variant G/A snv 1.6E-05 1.4E-05 0.700 1.000 4 2006 2017
dbSNP: rs1554646710
rs1554646710
1 1.000 0.120 9 6589193 splice donor variant A/C snv 0.700 1.000 3 2015 2017
dbSNP: rs386833521
rs386833521
1 1.000 0.120 9 6592982 stop gained G/A snv 2.0E-05 7.2E-06 0.700 1.000 3 2006 2015
dbSNP: rs386833531
rs386833531
1 1.000 0.120 9 6587205 stop gained G/A snv 1.2E-05 0.700 1.000 3 2006 2015
dbSNP: rs1207147043
rs1207147043
1 1.000 0.120 9 6604735 missense variant G/A snv 0.700 1.000 2 2015 2017
dbSNP: rs1406713104
rs1406713104
1 1.000 0.120 9 6533100 missense variant C/T snv 1.4E-05 0.700 1.000 2 2017 2017
dbSNP: rs149070244
rs149070244
1 1.000 0.120 9 6540050 splice donor variant C/G;T snv 2.0E-05 2.8E-05 0.700 1.000 2 2006 2017
dbSNP: rs1554643619
rs1554643619
1 1.000 0.120 9 6553502 missense variant G/A snv 0.700 1.000 2 2006 2017