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: rs587779021
rs587779021
4 0.851 0.200 3 37008905 missense variant G/A;C snv 0.700 0
dbSNP: rs587779157
rs587779157
6 0.827 0.240 2 47408486 inframe deletion GAAGTT/- delins 0.700 0
dbSNP: rs587780226
rs587780226
4 0.882 0.280 17 61799125 stop gained G/A;T snv 1.2E-05 0.700 0
dbSNP: rs587782705
rs587782705
8 0.807 0.280 17 7675157 missense variant G/A snv 8.0E-06 0.700 0
dbSNP: rs63750206
rs63750206
9 0.807 0.200 3 36996701 missense variant G/A;C;T snv 0.700 0
dbSNP: rs63750547
rs63750547
3 0.925 0.160 3 37020312 stop gained T/C;G snv 4.0E-06 0.700 0
dbSNP: rs63750691
rs63750691
4 0.882 0.160 3 37017521 stop gained C/G snv 0.700 0
dbSNP: rs63750767
rs63750767
4 0.925 0.160 2 47806588 stop gained -/TCAAAAGGGACATAGAAAA delins 7.0E-06 0.700 0
dbSNP: rs63750781
rs63750781
6 0.851 0.160 3 37004444 missense variant C/G;T snv 4.0E-06 0.700 0
dbSNP: rs63751207
rs63751207
6 0.851 0.240 2 47466718 missense variant G/A;C;T snv 8.0E-06 0.700 0
dbSNP: rs864622607
rs864622607
3 0.882 0.200 2 47803678 missense variant T/G snv 0.700 0
dbSNP: rs869312768
rs869312768
2 0.925 0.160 2 47429865 frameshift variant -/TT delins 0.700 0
dbSNP: rs869312770
rs869312770
3 0.925 0.160 2 47800829 frameshift variant AG/- delins 0.700 0
dbSNP: rs869312775
rs869312775
2 0.925 0.120 10 87933103 missense variant A/G snv 0.700 0
dbSNP: rs869312781
rs869312781
2 1.000 0.080 18 51058435 frameshift variant CCCCATCCCG/- delins 0.700 0
dbSNP: rs869312783
rs869312783
2 1.000 0.080 10 86892181 frameshift variant -/TTAG delins 0.700 0
dbSNP: rs989026404
rs989026404
1 1.000 0.080 17 21304500 missense variant T/C;G snv 4.0E-06 0.700 0
dbSNP: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.100 0.800 10 1997 2004
dbSNP: rs1801155
rs1801155
APC
42 0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 0.800 0.800 10 1997 2004
dbSNP: rs1364898025
rs1364898025
ATM
3 0.925 0.080 11 108227656 missense variant G/A snv 0.010 1.000 1 1998 1998
dbSNP: rs145188037
rs145188037
4 0.925 0.080 7 45914866 missense variant G/A snv 1.1E-02 9.9E-03 0.010 1.000 1 1998 1998
dbSNP: rs2854746
rs2854746
14 0.752 0.200 7 45921046 missense variant G/A;C;T snv 0.38 0.010 1.000 1 1998 1998
dbSNP: rs748676559
rs748676559
3 0.925 0.080 17 37284932 missense variant C/T snv 4.0E-06 2.1E-05 0.010 1.000 1 1998 1998
dbSNP: rs886063150
rs886063150
CA2
3 0.925 0.080 8 85477151 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs121913314
rs121913314
SRC
5 0.851 0.120 20 37403359 stop gained C/T snv 0.010 1.000 1 2000 2000