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: rs886042035
rs886042035
2 1.000 0.120 11 64808101 splice acceptor variant T/C;G snv 0.700 1.000 2 2002 2007
dbSNP: rs886039553
rs886039553
1 1.000 0.120 11 64809689 stop gained G/A snv 0.700 1.000 1 2008 2008
dbSNP: rs886039416
rs886039416
1 1.000 0.120 11 64807563 stop gained G/A;C snv 0.700 1.000 1 1999 1999
dbSNP: rs886039415
rs886039415
2 1.000 0.120 11 64807667 missense variant A/G snv 0.700 0
dbSNP: rs878855196
rs878855196
1 1.000 0.120 11 64807912 frameshift variant G/- del 0.700 0
dbSNP: rs878855192
rs878855192
1 1.000 0.120 11 64809752 stop gained T/A snv 0.700 0
dbSNP: rs878855191
rs878855191
1 1.000 0.120 11 64809787 frameshift variant C/- del 0.700 0
dbSNP: rs869025185
rs869025185
2 1.000 0.120 11 64805731 inframe deletion CCT/- delins 0.700 1.000 2 1997 2011
dbSNP: rs864622617
rs864622617
1 1.000 0.120 11 64804428 frameshift variant G/- del 0.700 0
dbSNP: rs864622615
rs864622615
1 1.000 0.120 11 64805171 stop gained G/A snv 0.700 1.000 4 2003 2017
dbSNP: rs863224807
rs863224807
1 1.000 0.120 11 64805757 missense variant G/A;T snv 0.700 1.000 28 1997 2017
dbSNP: rs863224527
rs863224527
2 1.000 0.120 11 64804503 missense variant C/T snv 0.800 0
dbSNP: rs863224526
rs863224526
2 1.000 0.120 11 64804738 stop gained C/A;G snv 0.700 1.000 3 2002 2006
dbSNP: rs794728657
rs794728657
2 1.000 0.120 11 64809750 inframe deletion TTC/- delins 0.700 1.000 6 1997 2012
dbSNP: rs794728654
rs794728654
1 1.000 0.120 11 64805060 stop gained G/A snv 0.700 1.000 3 1997 2015
dbSNP: rs794728652
rs794728652
2 1.000 0.120 11 64807551 splice donor variant C/A;T snv 4.0E-06 0.700 1.000 6 1998 2012
dbSNP: rs794728650
rs794728650
1 1.000 0.120 11 64807997 stop gained C/T snv 0.700 0
dbSNP: rs794728648
rs794728648
4 0.925 0.120 11 64808078 missense variant C/A;T snv 0.710 1.000 9 2001 2017
dbSNP: rs794728647
rs794728647
2 1.000 0.120 11 64809788 stop gained G/A;C snv 8.0E-06 0.700 0
dbSNP: rs794728640
rs794728640
2 1.000 0.120 11 64807914 frameshift variant TCTG/- delins 0.700 1.000 6 1998 2014
dbSNP: rs794728639
rs794728639
2 1.000 0.120 11 64809803 frameshift variant G/- delins 0.700 1.000 3 1997 2007
dbSNP: rs794728631
rs794728631
2 1.000 0.120 11 64804507 stop gained G/A snv 0.700 1.000 6 1999 2007
dbSNP: rs794728629
rs794728629
1 1.000 0.120 11 64804817 splice acceptor variant C/G;T snv 0.700 0
dbSNP: rs794728627
rs794728627
1 1.000 0.120 11 64805703 missense variant G/A;C snv 0.700 0
dbSNP: rs794728625
rs794728625
1 1.000 0.120 11 64807228 intron variant C/T snv 0.700 1.000 6 1999 2012