Source: ALL
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: rs1564724111
rs1564724111
BMPR1A
1 1.000 0.120 10 86919170 splice acceptor variant AGGTT/- del 0.700 1.000 2 2001 2002
dbSNP: rs377767326
rs377767326
SMAD4
1 1.000 0.120 18 51048839 stop gained C/T snv 0.700 1.000 2 2006 2007
dbSNP: rs587782400
rs587782400
BMPR1A
2 1.000 0.120 10 86917275 stop gained C/T snv 0.700 1.000 2 2001 2009
dbSNP: rs587782682
rs587782682
BMPR1A
2 1.000 0.120 10 86917140 stop gained C/A;T snv 3.2E-05 0.700 1.000 2 2002 2013
dbSNP: rs786203157
rs786203157
BMPR1A
2 1.000 0.120 10 86876019 start lost A/C;G snv 0.700 1.000 2 2009 2013
dbSNP: rs1060500744
rs1060500744
SMAD4
1 1.000 0.120 18 51078334 frameshift variant G/- delins 0.700 1.000 1 2008 2008
dbSNP: rs1555687387
rs1555687387
SMAD4
1 1.000 0.120 18 51076736 frameshift variant C/- delins 0.700 1.000 1 2008 2008
dbSNP: rs1564722014
rs1564722014
BMPR1A
1 1.000 0.120 10 86912382 frameshift variant T/- delins 0.700 1.000 1 2004 2004
dbSNP: rs1568211588
rs1568211588
SMAD4
1 1.000 0.120 18 51078380 stop gained G/A snv 0.700 1.000 1 2004 2004
dbSNP: rs377767328
rs377767328
SMAD4
2 1.000 0.120 18 51049296 frameshift variant TC/- delins 0.700 1.000 1 2006 2006
dbSNP: rs377767358
rs377767358
SMAD4
1 1.000 0.120 18 51067121 frameshift variant A/- del 0.700 1.000 1 2005 2005
dbSNP: rs786201038
rs786201038
BMPR1A
2 1.000 0.120 10 86890165 frameshift variant T/- delins 0.700 1.000 1 2013 2013
dbSNP: rs876660442
rs876660442
BMPR1A
2 1.000 0.120 10 86899863 frameshift variant -/A delins 0.700 1.000 1 2006 2006
dbSNP: rs878854664
rs878854664
BMPR1A
2 1.000 0.120 10 86923631 stop gained G/A snv 0.700 1.000 1 1993 1993
dbSNP: rs1060500733
rs1060500733
SMAD4
2 1.000 0.120 18 51065563 stop gained C/T snv 0.700 0
dbSNP: rs1060500734
rs1060500734
SMAD4
2 1.000 0.120 18 51067077 frameshift variant A/- del 0.700 0
dbSNP: rs1060500739
rs1060500739
SMAD4
1 1.000 0.120 18 51048696 frameshift variant AAGGA/- delins 0.700 0
dbSNP: rs1060500742
rs1060500742
SMAD4
1 1.000 0.120 18 51058181 frameshift variant GGCCTCAG/- delins 0.700 0
dbSNP: rs1060503409
rs1060503409
BMPR1A
1 1.000 0.120 10 86919249 frameshift variant CTCT/- delins 0.700 0
dbSNP: rs1064792985
rs1064792985
BMPR1A
1 1.000 0.120 10 86890203 frameshift variant TATTAATAACACATGC/- delins 0.700 0
dbSNP: rs1131691168
rs1131691168
BMPR1A
2 1.000 0.120 10 86899848 missense variant T/C snv 0.700 0
dbSNP: rs1131691179
rs1131691179
BMPR1A
2 1.000 0.120 10 86900037 frameshift variant TGATGGCAGCATTCGATG/GA delins 0.700 0
dbSNP: rs1131691181
rs1131691181
BMPR1A
2 1.000 0.120 10 86921574 stop gained C/G snv 0.700 0
dbSNP: rs121912577
rs121912577
SMAD4
2 0.925 0.160 18 51067115 stop gained C/G;T snv 8.0E-06 0.700 0
dbSNP: rs1230919713
rs1230919713
BMPR1A
1 1.000 0.120 10 86917292 stop gained C/A;T snv 4.0E-06 0.700 0