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: 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
dbSNP: rs1554646653
rs1554646653
1 1.000 0.120 9 6588641 missense variant G/C snv 0.700 1.000 2 2015 2017
dbSNP: rs191905539
rs191905539
1 1.000 0.120 9 6610328 stop gained C/A snv 2.0E-05 1.2E-04 0.700 1.000 2 2015 2017
dbSNP: rs386833518
rs386833518
1 1.000 0.120 9 6604592 frameshift variant T/- delins 1.2E-05 7.0E-06 0.700 1.000 2 2002 2007
dbSNP: rs386833545
rs386833545
1 1.000 0.120 9 6554783 splice acceptor variant T/C snv 4.1E-06 0.700 1.000 2 2014 2015
dbSNP: rs386833549
rs386833549
1 1.000 0.120 9 6554703 missense variant C/G;T snv 1.7E-04 0.700 1.000 2 2015 2017
dbSNP: rs925908885
rs925908885
1 1.000 0.120 9 6540132 missense variant C/T snv 0.700 1.000 2 2015 2017
dbSNP: rs1163356968
rs1163356968
1 1.000 0.120 9 6645476 stop gained C/G;T snv 1.4E-05 0.700 1.000 1 2017 2017
dbSNP: rs1196401015
rs1196401015
1 1.000 0.120 9 6556267 frameshift variant ATGATAGC/- delins 4.0E-06 0.700 1.000 1 2012 2012
dbSNP: rs1226098656
rs1226098656
1 1.000 0.120 9 6595081 stop gained G/A;T snv 4.0E-06 0.700 1.000 1 2017 2017