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: rs121913224
rs121913224
APC
14 0.742 0.200 5 112839515 frameshift variant AAAGA/- delins 0.700 0
dbSNP: rs137854567
rs137854567
APC
3 0.882 0.120 5 112819272 missense variant C/A;G;T snv 4.0E-06; 6.7E-04 0.700 0
dbSNP: rs137854568
rs137854568
APC
5 0.882 0.120 5 112815564 stop gained C/T snv 0.700 0
dbSNP: rs137854569
rs137854569
APC
3 0.882 0.120 5 112815499 stop gained C/G;T snv 0.700 0
dbSNP: rs137854570
rs137854570
APC
2 1.000 0.120 5 112837732 stop gained C/G snv 0.700 0
dbSNP: rs137854580
rs137854580
APC
6 0.827 0.120 5 112827194 stop gained C/G;T snv 2.8E-05 0.700 0
dbSNP: rs137854582
rs137854582
APC
2 0.925 0.120 5 112837687 stop gained T/A;G snv 0.700 0
dbSNP: rs137854583
rs137854583
APC
2 1.000 0.120 5 112780880 stop gained C/A;T snv 0.700 0
dbSNP: rs387906234
rs387906234
APC
7 0.827 0.120 5 112839979 frameshift variant AGAG/-;AG delins 0.700 0
dbSNP: rs387906236
rs387906236
APC
2 0.925 0.120 5 112840205 frameshift variant GA/- delins 0.700 0
dbSNP: rs121913333
rs121913333
APC
6 0.882 0.120 5 112838220 stop gained C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs143009528
rs143009528
MLH1
2 0.925 0.120 3 37025734 missense variant A/C;G;T snv 3.2E-05; 4.8E-05; 8.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs758987855
rs758987855
APC
2 0.925 0.120 5 112840581 stop gained G/A;T snv 0.010 1.000 1 2009 2009