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: rs104894310
rs104894310
1 1.000 0.040 11 112086921 stop gained G/A snv 0.700 0
dbSNP: rs1060503769
rs1060503769
2 0.925 0.160 11 112094805 stop gained G/A snv 0.700 0
dbSNP: rs1060503773
rs1060503773
2 0.925 0.160 11 112094882 frameshift variant T/- delins 0.700 0
dbSNP: rs1566690018
rs1566690018
3 0.882 0.200 11 112086920 frameshift variant TG/- del 0.700 0
dbSNP: rs587776648
rs587776648
3 0.882 0.200 11 112094824 frameshift variant GACT/- delins 0.700 0
dbSNP: rs587782210
rs587782210
4 0.882 0.200 11 112087959 stop gained C/A snv 0.700 0
dbSNP: rs864321644
rs864321644
1 1.000 0.040 11 112094873 frameshift variant T/- delins 0.700 0
dbSNP: rs876658477
rs876658477
3 0.882 0.200 11 112094810 missense variant T/G snv 4.0E-06 0.700 0
dbSNP: rs878854589
rs878854589
3 0.882 0.200 11 112086916 frameshift variant -/C delins 0.700 0
dbSNP: rs878854590
rs878854590
3 0.851 0.240 11 112088869 frameshift variant G/- delins 0.700 0
dbSNP: rs878854591
rs878854591
3 0.882 0.200 11 112088938 frameshift variant C/- delins 0.700 0
dbSNP: rs1555187083
rs1555187083
5 0.851 0.240 11 112089012 splice donor variant G/A;T snv 0.700 1.000 1 2006 2006
dbSNP: rs1060503770
rs1060503770
3 0.851 0.200 11 112094815 stop gained C/G;T snv 4.0E-06 0.710 1.000 0 2006 2006
dbSNP: rs104894309
rs104894309
4 0.851 0.200 11 112086940 stop gained C/A;T snv 4.0E-06 0.700 1.000 2 2002 2008
dbSNP: rs587776649
rs587776649
5 0.851 0.240 11 112087861 frameshift variant G/- del 0.700 1.000 1 2008 2008
dbSNP: rs397514034
rs397514034
4 0.882 0.200 11 112087896 frameshift variant TC/- delins 0.700 1.000 2 2001 2009
dbSNP: rs104894308
rs104894308
4 0.882 0.200 11 112087933 stop gained G/A snv 0.700 1.000 6 2002 2010
dbSNP: rs1306475361
rs1306475361
4 0.851 0.240 11 112088866 splice acceptor variant G/T snv 4.0E-06 0.700 1.000 6 2002 2010
dbSNP: rs1566691921
rs1566691921
3 0.882 0.200 11 112087856 splice acceptor variant GC/TT mnv 0.700 1.000 2 2009 2010
dbSNP: rs80338842
rs80338842
5 0.790 0.280 11 112086910 start lost G/A;C snv 0.700 1.000 11 2001 2012
dbSNP: rs104894306
rs104894306
4 0.882 0.200 11 112087868 stop gained C/T snv 0.700 1.000 7 2001 2012
dbSNP: rs104894307
rs104894307
5 0.851 0.200 11 112086908 start lost A/G;T snv 8.0E-06 0.700 1.000 7 2001 2012
dbSNP: rs104894302
rs104894302
5 0.851 0.200 11 112089002 missense variant A/G;T snv 4.0E-06 0.700 1.000 5 2000 2012
dbSNP: rs1050032491
rs1050032491
4 0.851 0.240 11 112094832 stop gained T/A;C snv 7.0E-06 0.700 1.000 3 2001 2012
dbSNP: rs387906358
rs387906358
4 0.851 0.200 11 112088884 frameshift variant TC/- delins 0.700 1.000 4 2001 2013