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: rs587783060
rs587783060
SMAD4
1 1.000 0.120 18 51078354 frameshift variant -/A delins 0.700 1.000 11 2000 2013
dbSNP: rs587783038
rs587783038
BMPR1A
1 1.000 0.120 10 86890109 frameshift variant -/A ins 0.700 1.000 7 2001 2013
dbSNP: rs876660442
rs876660442
BMPR1A
2 1.000 0.120 10 86899863 frameshift variant -/A delins 0.700 1.000 1 2006 2006
dbSNP: rs1554890815
rs1554890815
BMPR1A
1 1.000 0.120 10 86917321 frameshift variant -/A delins 0.700 0
dbSNP: rs1555686616
rs1555686616
SMAD4
1 1.000 0.120 18 51067149 frameshift variant -/A delins 0.700 0
dbSNP: rs1564721929
rs1564721929
BMPR1A
1 1.000 0.120 10 86912274 stop gained -/A delins 0.700 0
dbSNP: rs1564723486
rs1564723486
BMPR1A
1 1.000 0.120 10 86917303 frameshift variant -/A delins 0.700 0
dbSNP: rs377767376
rs377767376
SMAD4
1 1.000 0.120 18 51078394 frameshift variant -/A delins 0.700 0
dbSNP: rs377767324
rs377767324
SMAD4
1 1.000 0.120 18 51048809 frameshift variant -/AT ins 0.700 0
dbSNP: rs1554891032
rs1554891032
BMPR1A
1 1.000 0.120 10 86919218 frameshift variant -/ATTT delins 0.700 0
dbSNP: rs1554891043
rs1554891043
BMPR1A
1 1.000 0.120 10 86919259 frameshift variant -/C delins 0.700 0
dbSNP: rs1568206602
rs1568206602
SMAD4
1 1.000 0.120 18 51059897 frameshift variant -/C delins 0.700 0
dbSNP: rs1555687386
rs1555687386
SMAD4
1 1.000 0.120 18 51076734 frameshift variant -/CCCT delins 0.700 1.000 6 1997 2012
dbSNP: rs377767364
rs377767364
SMAD4
1 1.000 0.120 18 51076738 frameshift variant -/CCCT ins 0.700 0
dbSNP: rs1554890759
rs1554890759
BMPR1A
1 1.000 0.120 10 86917188 frameshift variant -/G delins 0.700 0
dbSNP: rs377767334
rs377767334
SMAD4
3 0.925 0.200 18 51058143 frameshift variant -/G delins 0.700 0
dbSNP: rs377767338
rs377767338
SMAD4
1 1.000 0.120 18 51059884 frameshift variant -/GCAT delins 0.700 0
dbSNP: rs377767335
rs377767335
SMAD4
1 1.000 0.120 18 51058186 frameshift variant -/GCCC delins 0.700 0
dbSNP: rs786204125
rs786204125
SMAD4
1 1.000 0.120 18 51076682 frameshift variant -/GCTACTGCACAAGCTGCAGCAGCTGCCC delins 4.0E-06 0.700 0
dbSNP: rs1554890219
rs1554890219
BMPR1A
1 1.000 0.120 10 86912284 frameshift variant -/T delins 0.700 0
dbSNP: rs377767341
rs377767341
SMAD4
1 1.000 0.120 18 51065447 frameshift variant -/T delins 0.700 0
dbSNP: rs377767384
rs377767384
SMAD4
1 1.000 0.120 18 51078414 frameshift variant -/T delins 0.700 0
dbSNP: rs878854765
rs878854765
SMAD4
1 1.000 0.120 18 51067083 frameshift variant -/T delins 0.700 0
dbSNP: rs377767325
rs377767325
SMAD4
1 1.000 0.120 18 51048810 frameshift variant -/TGTCTGT delins 0.700 0
dbSNP: rs377767358
rs377767358
SMAD4
1 1.000 0.120 18 51067121 frameshift variant A/- del 0.700 1.000 1 2005 2005