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: rs63750447
rs63750447
MLH1
17 0.716 0.200 3 37025749 missense variant T/A snv 2.7E-03 7.5E-04 0.010 1.000 1 1998 1998
dbSNP: rs4994
rs4994
ADRB3
65 0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 0.010 1.000 1 2001 2001
dbSNP: rs1237063529
rs1237063529
CBS
13 0.752 0.360 21 43058894 missense variant T/G snv 5.6E-06 0.010 1.000 1 2002 2002
dbSNP: rs770649674
rs770649674
APC
6 0.807 0.120 5 112827177 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs777919630
rs777919630
CBS
40 0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs1052748
rs1052748
PLD2
2 0.925 0.080 17 4817174 missense variant C/T snv 0.39 0.36 0.010 1.000 1 2003 2003
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.020 1.000 2 1999 2004
dbSNP: rs143353451
rs143353451
MUTYH
5 0.851 0.120 1 45332794 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 1.2E-05 0.010 1.000 1 2004 2004
dbSNP: rs175080
rs175080
MLH3
9 0.776 0.240 14 75047125 missense variant G/A snv 0.40 0.43 0.010 < 0.001 1 2004 2004
dbSNP: rs2229080
rs2229080
DCC
16 0.742 0.320 18 52906232 missense variant C/A;G snv 0.45 0.010 1.000 1 2004 2004
dbSNP: rs28756992
rs28756992
MLH3
2 0.925 0.080 14 75047123 missense variant T/C snv 1.1E-02 1.5E-02 0.010 < 0.001 1 2004 2004
dbSNP: rs34767364
rs34767364
NBN
20 0.701 0.280 8 89971232 missense variant G/A;C snv 2.5E-03 0.010 1.000 1 2004 2004
dbSNP: rs530670052
rs530670052
APC
2 0.925 0.080 5 112801313 missense variant A/G snv 1.6E-05 1.4E-05 0.010 1.000 1 2004 2004
dbSNP: rs56053615
rs56053615
OGG1
4 0.851 0.120 3 9751845 missense variant G/A;T snv 3.4E-04; 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs28930073
rs28930073
MLH1
5 0.827 0.200 3 37007004 missense variant G/C snv 2.1E-04 1.9E-04 0.020 1.000 2 2004 2005
dbSNP: rs34296044
rs34296044
EXO1
3 0.925 0.080 1 241885371 frameshift variant C/- delins 0.010 1.000 1 2005 2005
dbSNP: rs351855
rs351855
FGFR4
58 0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 0.010 1.000 1 2005 2005
dbSNP: rs4149963
rs4149963
EXO1
7 0.851 0.120 1 241872080 missense variant C/T snv 0.11; 6.8E-05 7.6E-02 0.010 1.000 1 2005 2005
dbSNP: rs63750258
rs63750258
MSH6 ; FBXO11
5 0.851 0.200 2 47800966 stop gained G/A;C;T snv 0.010 1.000 1 2005 2005
dbSNP: rs758272654
rs758272654
GNAS
50 0.611 0.680 20 58909201 synonymous variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs9350
rs9350
EXO1
16 0.742 0.240 1 241885372 missense variant C/T snv 0.21 0.19 0.010 1.000 1 2005 2005
dbSNP: rs1131691029
rs1131691029
TP53
6 0.827 0.160 17 7673794 missense variant C/G snv 0.010 1.000 1 2006 2006
dbSNP: rs1230416942
rs1230416942
TTI2 ; MAK16
3 0.925 0.080 8 33498547 missense variant G/C snv 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs20575
rs20575
TNFRSF10A
29 0.645 0.440 8 23201811 missense variant C/G snv 0.54 0.44 0.010 1.000 1 2006 2006
dbSNP: rs20576
rs20576
TNFRSF10A
34 0.637 0.400 8 23200707 missense variant T/G snv 0.15 0.14 0.010 1.000 1 2006 2006