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: rs878859113
rs878859113
CD24
11 0.763 0.360 6 106971734 missense variant G/A snv 0.35 0.010 1.000 1 2015 2015
dbSNP: rs545532525
rs545532525
LDLR
5 0.851 0.200 19 11110753 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs935577712
rs935577712
ATXN2
3 0.925 0.200 12 111552304 missense variant T/C snv 4.1E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs3846716
rs3846716
APC
1 1.000 0.120 5 112723897 intron variant A/G snv 0.52 0.010 1.000 1 2010 2010
dbSNP: rs11954856
rs11954856
APC
12 0.732 0.200 5 112751630 intron variant T/G snv 0.54 0.010 1.000 1 2019 2019
dbSNP: rs145945630
rs145945630
APC
7 0.827 0.120 5 112754960 stop gained C/T snv 2.4E-05 0.700 1.000 2 2008 2015
dbSNP: rs587781694
rs587781694
APC
3 0.925 0.120 5 112766335 frameshift variant ACAA/- delins 0.700 0
dbSNP: rs79323615
rs79323615
APC
1 1.000 0.120 5 112766380 stop gained G/T snv 0.700 0
dbSNP: rs1554069549
rs1554069549
APC
1 1.000 0.120 5 112766393 stop gained T/G snv 0.700 0
dbSNP: rs876658941
rs876658941
APC
3 0.925 0.120 5 112766410 stop gained G/A;C;T snv 0.700 0
dbSNP: rs1554069570
rs1554069570
APC
1 1.000 0.120 5 112766411 splice donor variant G/A snv 0.700 0
dbSNP: rs587781809
rs587781809
APC
3 0.925 0.120 5 112766412 splice donor variant T/A;C snv 0.700 0
dbSNP: rs1179254201
rs1179254201
APC
2 0.925 0.200 5 112767213 missense variant T/C snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs376213437
rs376213437
APC
3 0.925 0.120 5 112767256 stop gained T/A;C;G snv 4.0E-06; 4.0E-05 0.700 0
dbSNP: rs139196838
rs139196838
APC
1 1.000 0.120 5 112767263 missense variant C/A;T snv 4.0E-06; 3.9E-04 0.700 1.000 11 1991 2016
dbSNP: rs863225335
rs863225335
APC
2 1.000 0.120 5 112767269 stop gained G/T snv 0.010 1.000 1 1998 1998
dbSNP: rs1414406816
rs1414406816
APC
1 1.000 0.120 5 112767293 stop gained G/A;T snv 0.700 0
dbSNP: rs1554069805
rs1554069805
APC
1 1.000 0.120 5 112767313 frameshift variant GGTTCATTTCCAAG/- delins 0.700 0
dbSNP: rs773952596
rs773952596
APC
1 1.000 0.120 5 112767344 stop gained G/T snv 2.4E-05 0.010 1.000 1 1998 1998
dbSNP: rs150973053
rs150973053
APC
4 0.851 0.200 5 112767356 missense variant A/G snv 3.5E-04 2.7E-04 0.010 1.000 1 2008 2008
dbSNP: rs1816769
rs1816769
APC
1 1.000 0.120 5 112774082 intron variant G/C snv 0.54 0.010 1.000 1 2013 2013
dbSNP: rs397514031
rs397514031
APC
3 0.925 0.120 5 112775628 splice acceptor variant G/A;C snv 0.700 0
dbSNP: rs863224458
rs863224458
APC
2 0.925 0.120 5 112775629 missense variant G/T snv 0.700 0
dbSNP: rs587782557
rs587782557
APC
3 0.925 0.120 5 112775632 frameshift variant AT/- del 0.700 1.000 6 1993 2013
dbSNP: rs1554071521
rs1554071521
APC
1 1.000 0.120 5 112775661 frameshift variant A/- delins 0.700 0