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: 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: 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: 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
dbSNP: rs1251443902
rs1251443902
1 1.000 0.120 9 6645372 frameshift variant T/- del 1.4E-05 0.700 1.000 1 2015 2015
dbSNP: rs1259354298
rs1259354298
1 1.000 0.120 9 6550916 splice acceptor variant T/C snv 0.700 1.000 1 2015 2015
dbSNP: rs1399754800
rs1399754800
1 1.000 0.120 9 6587140 splice donor variant C/- delins 7.0E-06 0.700 1.000 1 2006 2006
dbSNP: rs1430968530
rs1430968530
1 1.000 0.120 9 6540102 stop gained T/A snv 7.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs1554641737
rs1554641737
1 1.000 0.120 9 6534738 frameshift variant -/G delins 0.700 1.000 1 2017 2017
dbSNP: rs1554641887
rs1554641887
1 1.000 0.120 9 6536062 splice donor variant A/G snv 0.700 1.000 1 2017 2017
dbSNP: rs1554643360
rs1554643360
1 1.000 0.120 9 6550845 stop gained G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs1554643738
rs1554643738
1 1.000 0.120 9 6554667 splice donor variant A/T snv 0.700 1.000 1 2017 2017
dbSNP: rs1554646529
rs1554646529
1 1.000 0.120 9 6587268 stop gained C/A snv 0.700 1.000 1 2017 2017
dbSNP: rs373618804
rs373618804
1 1.000 0.120 9 6553508 stop gained T/A snv 4.0E-06 7.6E-06 0.700 1.000 1 2017 2017
dbSNP: rs386833560
rs386833560
1 1.000 0.120 9 6550883 missense variant G/A snv 2.4E-05 3.5E-05 0.700 1.000 1 2017 2017
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: rs386833574
rs386833574
1 1.000 0.120 9 6645472 frameshift variant G/- del 0.700 1.000 1 2006 2006
dbSNP: rs386833575
rs386833575
1 1.000 0.120 9 6534707 splice donor variant C/T snv 1.6E-05 1.4E-05 0.700 1.000 1 2006 2006
dbSNP: rs386833586
rs386833586
1 1.000 0.120 9 6605199 frameshift variant G/- delins 4.0E-06 2.1E-05 0.700 1.000 1 2006 2006
dbSNP: rs570097430
rs570097430
1 1.000 0.120 9 6602156 stop gained G/A;T snv 4.0E-06; 4.0E-06 0.700 1.000 1 2017 2017