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: rs1114167486
rs1114167486
2 1.000 0.120 11 64809873 frameshift variant G/- delins 0.700 1.000 1 2002 2002
dbSNP: rs1114167489
rs1114167489
2 1.000 0.120 11 64806231 splice donor variant C/G;T snv 0.700 1.000 3 2002 2007
dbSNP: rs1114167491
rs1114167491
2 1.000 0.120 11 64809977 missense variant C/T snv 0.700 1.000 8 2001 2017
dbSNP: rs1114167493
rs1114167493
2 1.000 0.120 11 64807082 missense variant C/T snv 0.700 0
dbSNP: rs1114167494
rs1114167494
3 1.000 0.120 11 64808031 missense variant C/A snv 0.700 0
dbSNP: rs1114167495
rs1114167495
2 1.000 0.120 11 64806331 missense variant T/C snv 0.700 0
dbSNP: rs1114167498
rs1114167498
2 1.000 0.120 11 64806370 splice acceptor variant T/C snv 0.700 1.000 2 2002 2007
dbSNP: rs1114167515
rs1114167515
2 1.000 0.120 11 64809694 missense variant T/C snv 0.700 0
dbSNP: rs1114167524
rs1114167524
2 1.000 0.120 11 64805159 frameshift variant -/GGAC ins 0.700 1.000 3 1997 2006
dbSNP: rs1114167528
rs1114167528
2 1.000 0.120 11 64805103 missense variant A/T snv 0.800 0
dbSNP: rs1114167531
rs1114167531
2 1.000 0.120 11 64804777 frameshift variant -/CTCTCGGC delins 0.700 1.000 4 2002 2008
dbSNP: rs1114167536
rs1114167536
2 1.000 0.120 11 64804753 frameshift variant -/ACGGCTCC delins 0.700 1.000 4 2004 2010
dbSNP: rs1114167543
rs1114167543
2 1.000 0.120 11 64809680 missense variant A/C snv 0.700 1.000 20 1997 2005
dbSNP: rs1298484645
rs1298484645
1 1.000 0.120 11 64805666 missense variant G/A snv 4.0E-06 0.700 1.000 8 2001 2017
dbSNP: rs1387157979
rs1387157979
1 1.000 0.120 11 64804537 missense variant G/A snv 4.0E-06 0.700 1.000 20 1997 2005
dbSNP: rs1389398299
rs1389398299
1 1.000 0.120 11 64809781 missense variant C/G;T snv 8.0E-06 0.700 1.000 20 1997 2005
dbSNP: rs141679530
rs141679530
1 1.000 0.120 11 64804632 stop gained G/A;C;T snv 3.4E-05 0.700 0
dbSNP: rs149383809
rs149383809
2 0.925 0.120 11 64805722 missense variant T/A snv 7.2E-05 3.5E-05 0.010 1.000 1 2011 2011
dbSNP: rs1555163646
rs1555163646
1 1.000 0.120 11 64804694 frameshift variant C/- del 0.700 1.000 2 2004 2006
dbSNP: rs1555163780
rs1555163780
1 1.000 0.120 11 64804762 frameshift variant -/CTCGGCCGCCTCGGCCTCTCGGC delins 0.700 0
dbSNP: rs1555163883
rs1555163883
1 1.000 0.120 11 64804785 frameshift variant TCTCGGCT/- del 0.700 0
dbSNP: rs1555164115
rs1555164115
1 1.000 0.120 11 64805032 splice donor variant A/G snv 0.700 0
dbSNP: rs1555164184
rs1555164184
1 1.000 0.120 11 64805072 frameshift variant -/G delins 0.700 1.000 1 2006 2006
dbSNP: rs1555164430
rs1555164430
1 1.000 0.120 11 64805190 frameshift variant -/T delins 0.700 0
dbSNP: rs1555164707
rs1555164707
1 1.000 0.120 11 64805717 missense variant G/T snv 0.800 1.000 28 1997 2017