Source: CURATED ×
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: rs1019221239
rs1019221239
APC
3 0.925 0.120 5 112835093 stop gained T/A;C;G snv 4.0E-06 0.700 0
dbSNP: rs1057517544
rs1057517544
APC
1 1.000 0.120 5 112841544 frameshift variant TGAA/- delins 0.700 1.000 1 2005 2005
dbSNP: rs1057517553
rs1057517553
APC
1 1.000 0.120 5 112838605 frameshift variant GCCCATA/- delins 0.700 0
dbSNP: rs1057517558
rs1057517558
APC
2 0.882 0.120 5 112839549 frameshift variant C/- delins 0.700 1.000 4 1994 2015
dbSNP: rs1057517559
rs1057517559
APC
2 1.000 0.120 5 112815595 splice donor variant T/C snv 0.700 1.000 4 2004 2013
dbSNP: rs1057517561
rs1057517561
APC
1 1.000 0.120 5 112827249 splice donor variant T/C snv 0.700 0
dbSNP: rs1057517568
rs1057517568
APC
1 1.000 0.120 5 112841965 stop gained T/A snv 0.700 1.000 8 1992 2015
dbSNP: rs1057518901
rs1057518901
APC
2 1.000 0.120 5 112840494 frameshift variant C/- delins 0.700 0
dbSNP: rs1060503257
rs1060503257
APC
1 1.000 0.120 5 112775738 splice donor variant -/T delins 0.700 1.000 2 2004 2013
dbSNP: rs1060503259
rs1060503259
APC
1 1.000 0.120 5 112828967 frameshift variant A/- delins 0.700 0
dbSNP: rs1060503261
rs1060503261
APC
2 1.000 0.120 5 112801383 splice region variant G/A snv 0.700 1.000 3 2005 2013
dbSNP: rs1060503263
rs1060503263
APC
1 1.000 0.120 5 112815531 frameshift variant TTGAGTT/- delins 0.700 0
dbSNP: rs1060503282
rs1060503282
APC
1 1.000 0.120 5 112837691 stop gained G/A;C snv 0.700 0
dbSNP: rs1060503287
rs1060503287
APC
1 1.000 0.120 5 112838229 stop gained C/T snv 0.700 0
dbSNP: rs1060503299
rs1060503299
APC
1 1.000 0.120 5 112839421 stop gained C/A;G snv 0.700 1.000 4 1998 2008
dbSNP: rs1060503305
rs1060503305
APC
1 1.000 0.120 5 112837690 frameshift variant G/- delins 0.700 0
dbSNP: rs1060503307
rs1060503307
APC
1 1.000 0.120 5 112838503 frameshift variant TG/- delins 0.700 0
dbSNP: rs1060503310
rs1060503310
APC
1 1.000 0.120 5 112837903 stop gained C/G snv 0.700 1.000 10 1992 2015
dbSNP: rs1060503318
rs1060503318
APC
2 1.000 0.120 5 112835165 missense variant G/A;T snv 0.700 1.000 4 2008 2015
dbSNP: rs1060503321
rs1060503321
APC
1 1.000 0.120 5 112837726 frameshift variant T/- delins 0.700 0
dbSNP: rs1060503323
rs1060503323
APC
3 0.925 0.120 5 112780782 splice region variant G/A snv 0.700 0
dbSNP: rs1060503326
rs1060503326
APC
1 1.000 0.120 5 112839170 frameshift variant CA/- delins 0.700 1.000 8 1991 2010
dbSNP: rs1060503327
rs1060503327
APC
1 1.000 0.120 5 112838832 frameshift variant AG/- delins 0.700 0
dbSNP: rs1060503328
rs1060503328
APC
1 1.000 0.120 5 112775677 stop gained G/A snv 4.0E-06 0.700 1.000 2 1993 2010
dbSNP: rs1060503333
rs1060503333
APC
3 0.925 0.120 5 112821953 stop gained C/A;G snv 0.700 0