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: rs794728640
rs794728640
2 1.000 0.120 11 64807914 frameshift variant TCTG/- delins 0.700 1.000 9 1997 2016
dbSNP: rs1060499974
rs1060499974
2 1.000 0.120 11 64805141 stop gained G/A snv 7.0E-06 0.700 1.000 8 1997 2017
dbSNP: rs767319284
rs767319284
2 1.000 0.120 11 64804621 frameshift variant G/-;GG delins 0.700 1.000 8 1990 2012
dbSNP: rs869025185
rs869025185
2 1.000 0.120 11 64805731 inframe deletion CCT/- delins 0.700 1.000 8 1997 2012
dbSNP: rs1114167543
rs1114167543
2 1.000 0.120 11 64809680 missense variant A/C snv 0.700 1.000 7 1997 2012
dbSNP: rs587776841
rs587776841
3 0.925 0.120 11 64809858 frameshift variant ACAG/- delins 0.700 1.000 7 1997 2014
dbSNP: rs794728618
rs794728618
1 11 64808030 missense variant T/A snv 0.700 1.000 7 1998 2016
dbSNP: rs794728657
rs794728657
2 1.000 0.120 11 64809750 inframe deletion TTC/- delins 0.700 1.000 7 1997 2011
dbSNP: rs863224527
rs863224527
2 1.000 0.120 11 64804503 missense variant C/T snv 0.700 1.000 7 1998 2012
dbSNP: rs104894263
rs104894263
2 1.000 0.120 11 64809695 missense variant G/C snv 0.700 1.000 6 1997 2013
dbSNP: rs376872829
rs376872829
2 1.000 0.120 11 64808019 missense variant C/A;G;T snv 2.0E-05; 4.0E-06 0.700 1.000 6 1997 2013
dbSNP: rs794728647
rs794728647
2 1.000 0.120 11 64809788 stop gained G/A;C snv 8.0E-06 0.700 1.000 6 1997 2015
dbSNP: rs1114167469
rs1114167469
3 0.925 0.160 11 64806322 missense variant G/A snv 0.700 1.000 5 1998 2013
dbSNP: rs1114167494
rs1114167494
3 1.000 0.120 11 64808031 missense variant C/A snv 0.700 1.000 5 1998 2002
dbSNP: rs794728615
rs794728615
5 0.882 0.160 11 64810025 stop gained G/A;C snv 4.2E-06 0.700 1.000 5 1998 2012
dbSNP: rs794728652
rs794728652
2 1.000 0.120 11 64807551 splice donor variant C/A;T snv 4.0E-06 0.700 1.000 5 1998 2015
dbSNP: rs1114167536
rs1114167536
2 1.000 0.120 11 64804753 frameshift variant -/ACGGCTCC delins 0.700 1.000 4 2005 2012
dbSNP: rs794728639
rs794728639
2 1.000 0.120 11 64809803 frameshift variant G/- delins 0.700 1.000 4 1997 2005
dbSNP: rs886039415
rs886039415
2 1.000 0.120 11 64807667 missense variant A/G snv 0.700 1.000 4 1998 2002
dbSNP: rs104894264
rs104894264
2 1.000 0.120 11 64805132 missense variant C/A;G;T snv 0.700 1.000 3 2004 2016
dbSNP: rs1060499973
rs1060499973
1 11 64807093 missense variant G/A;T snv 0.700 1.000 3 2002 2011
dbSNP: rs1114167488
rs1114167488
1 11 64807632 missense variant C/T snv 0.700 1.000 3 2007 2016
dbSNP: rs1114167517
rs1114167517
1 11 64804498 missense variant T/C snv 0.700 1.000 3 2006 2012
dbSNP: rs1114167528
rs1114167528
2 1.000 0.120 11 64805103 missense variant A/T snv 0.700 1.000 3 1998 2007
dbSNP: rs397515385
rs397515385
2 1.000 0.120 11 64809708 frameshift variant G/- del 0.700 1.000 3 1997 1998