Source: BEFREE ×
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: rs104894230
rs104894230
HRAS ; LRRC56
42 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.010 < 0.001 1 1999 1999
dbSNP: rs727503094
rs727503094
HRAS ; LRRC56
41 0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 0.010 < 0.001 1 1999 1999
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: rs1259132664
rs1259132664
APBA2
1 1.000 0.080 15 29054561 missense variant T/C snv 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs28934575
rs28934575
TP53
14 0.641 0.400 17 7674230 missense variant C/A;G;T snv 0.010 1.000 1 2002 2002
dbSNP: rs777919630
rs777919630
CBS
39 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: rs879253942
rs879253942
TP53
25 0.677 0.400 17 7673826 missense variant A/G snv 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: rs1386661424
rs1386661424
FOLH1
1 1.000 0.080 11 49164726 missense variant C/A snv 0.010 1.000 1 2004 2004
dbSNP: rs143353451
rs143353451
MUTYH
2 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: rs61886492
rs61886492
FOLH1
12 0.763 0.360 11 49164722 missense variant G/A snv 3.7E-02 4.0E-02 0.010 1.000 1 2004 2004
dbSNP: rs63749984
rs63749984
MSH2
1 0.925 0.160 2 47410340 stop gained G/C;T snv 1.6E-05 0.010 1.000 1 2004 2004
dbSNP: rs757333753
rs757333753
RAF1
6 0.851 0.200 3 12618681 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs765480781
rs765480781
MLH1
1 1.000 0.080 3 37050648 missense variant T/G snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs770649674
rs770649674
APC
6 0.807 0.120 5 112827177 missense variant A/G snv 4.0E-06 7.0E-06 0.030 1.000 3 2002 2005
dbSNP: rs587782868
rs587782868
APC
5 0.827 0.200 5 112827951 missense variant G/A;C snv 3.2E-05 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
55 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