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: rs121918256
rs121918256
3 0.925 0.080 6 49457789 missense variant T/A snv 6.8E-05 2.8E-05 0.720 1.000 4 2001 2009
dbSNP: rs774159791
rs774159791
2 1.000 0.080 6 49448861 stop gained G/A snv 6.8E-05 2.8E-05 0.700 1.000 6 2002 2016
dbSNP: rs104893851
rs104893851
6 1.000 0.080 4 145639572 stop gained C/T snv 1.6E-04 1.7E-04 0.700 1.000 5 2004 2017
dbSNP: rs483352778
rs483352778
3 0.925 0.080 6 49459144 missense variant C/T snv 2.0E-05; 4.0E-06 1.4E-05 0.700 1.000 5 2001 2010
dbSNP: rs757548934
rs757548934
1 4 145651070 stop gained C/T snv 1.2E-05 0.700 1.000 4 2004 2015
dbSNP: rs1028877309
rs1028877309
1 6 49457690 splice donor variant C/T snv 7.0E-06 0.700 1.000 3 2006 2016
dbSNP: rs369296618
rs369296618
2 1.000 0.080 12 109557081 stop gained G/A snv 3.2E-05 3.5E-05 0.700 1.000 3 2006 2012
dbSNP: rs763935916
rs763935916
2 1.000 0.080 12 109568864 splice acceptor variant C/A snv 4.0E-05 1.4E-05 0.700 1.000 3 2002 2016
dbSNP: rs770466993
rs770466993
2 1.000 0.080 6 49453643 stop gained G/C;T snv 4.0E-06; 4.0E-06 0.700 1.000 3 2005 2015
dbSNP: rs879253851
rs879253851
2 1.000 0.080 6 49431784 frameshift variant CGGC/TTCCA delins 0.700 1.000 3 2000 2006
dbSNP: rs121918251
rs121918251
3 0.925 0.080 6 49459189 missense variant C/T snv 6.4E-05 4.2E-05 0.700 1.000 2 1991 2016
dbSNP: rs121918252
rs121918252
3 0.925 0.080 6 49431831 missense variant C/A snv 4.8E-05 2.1E-04 0.700 1.000 2 2006 2016
dbSNP: rs28941784
rs28941784
2 1.000 0.080 12 109561068 missense variant G/A snv 1.4E-04 1.5E-04 0.700 1.000 2 2002 2006
dbSNP: rs398123278
rs398123278
4 0.925 0.120 6 49459376 stop gained G/A snv 1.6E-05 2.8E-05 0.700 1.000 2 2006 2016
dbSNP: rs752898811
rs752898811
2 1.000 0.080 6 49453645 frameshift variant -/T delins 8.0E-06; 1.6E-05 0.700 1.000 2 2005 2006
dbSNP: rs753288303
rs753288303
2 1.000 0.080 6 49451518 missense variant C/T snv 2.8E-05 1.4E-05 0.700 1.000 2 2014 2015
dbSNP: rs756195708
rs756195708
2 1.000 0.080 12 109561040 missense variant C/T snv 8.1E-06 1.4E-05 0.700 1.000 2 2010 2015
dbSNP: rs765799472
rs765799472
2 1.000 0.080 4 145639203 stop gained C/T snv 2.0E-05 7.0E-06 0.700 1.000 2 2004 2012
dbSNP: rs796051993
rs796051993
2 1.000 0.080 4 145646013 frameshift variant CTGA/- delins 0.700 1.000 2 2004 2012
dbSNP: rs796052002
rs796052002
2 1.000 0.080 6 49453686 missense variant G/A snv 7.0E-06 0.700 1.000 2 2005 2012
dbSNP: rs796052006
rs796052006
2 1.000 0.080 6 49457689 splice donor variant A/T snv 4.0E-06 0.700 1.000 2 2006 2011
dbSNP: rs746085723
rs746085723
1 6 49453583 splice donor variant A/T snv 4.0E-06; 8.0E-06 1.4E-05 0.700 1.000 1 2015 2015
dbSNP: rs761477436
rs761477436
2 1.000 0.080 6 49456141 stop gained C/A;T snv 1.6E-05 0.700 1.000 1 2006 2006
dbSNP: rs761525156
rs761525156
2 1.000 0.080 6 49447699 stop gained G/A snv 4.0E-06 2.1E-05 0.700 1.000 1 2005 2005
dbSNP: rs777758903
rs777758903
2 1.000 0.080 6 49435500 missense variant G/A snv 2.0E-05 7.0E-06 0.700 1.000 1 2016 2016