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: rs1045485
rs1045485
CASP8
34 0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02 0.010 1.000 1 2006 2006
dbSNP: rs104894226
rs104894226
HRAS ; LRRC56
8 0.658 0.560 11 534285 missense variant C/A;G;T snv 0.010 1.000 1 2006 2006
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
42 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.010 1.000 1 2006 2006
dbSNP: rs1064795841
rs1064795841
TP53
4 0.882 0.080 17 7674971 missense variant C/T snv 0.010 1.000 1 2006 2006
dbSNP: rs1131691014
rs1131691014
TP53
213 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2006 2006
dbSNP: rs1131691021
rs1131691021
TP53
21 0.716 0.120 17 7675097 missense variant A/C;G snv 0.010 1.000 1 2006 2006
dbSNP: rs1131691029
rs1131691029
TP53
4 0.827 0.160 17 7673794 missense variant C/G snv 0.010 1.000 1 2006 2006
dbSNP: rs1805097
rs1805097
IRS2
21 0.689 0.360 13 109782884 missense variant C/G;T snv 0.35 0.010 1.000 1 2006 2006
dbSNP: rs5273
rs5273
PTGS2
6 0.827 0.080 1 186674636 missense variant A/C;G snv 4.0E-06; 7.6E-03 1.4E-02 0.010 < 0.001 1 2006 2006
dbSNP: rs727503094
rs727503094
HRAS ; LRRC56
41 0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 0.010 1.000 1 2006 2006
dbSNP: rs762846821
rs762846821
TP53
56 0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.010 1.000 1 2006 2006
dbSNP: rs12917
rs12917
MGMT ; LOC105378560
45 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 0.010 1.000 1 2007 2007
dbSNP: rs1440032367
rs1440032367
COL11A2
3 0.925 0.080 6 33189169 missense variant G/C snv 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1801157
rs1801157
CXCL12
46 0.611 0.600 10 44372809 3 prime UTR variant C/T snv 0.16 0.010 1.000 1 2007 2007
dbSNP: rs202011365
rs202011365
IL4 ; LOC105379176
2 0.925 0.080 5 132679748 stop gained C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs231775
rs231775
CTLA4
114 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs3219145
rs3219145
PARP1
4 0.882 0.120 1 226363128 missense variant T/C;G snv 1.2E-02; 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs777980327
rs777980327
APC
21 0.716 0.280 5 112837567 missense variant A/T snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2007 2007
dbSNP: rs1130409
rs1130409
APEX1
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2008 2008
dbSNP: rs1222213359
rs1222213359
VEGFA
62 0.574 0.720 6 43770966 missense variant G/A snv 0.010 < 0.001 1 2008 2008
dbSNP: rs12485716
rs12485716
CASR
2 0.925 0.080 3 122260843 intron variant G/A snv 0.36 0.010 1.000 1 2008 2008
dbSNP: rs1450640054
rs1450640054
IGFBP3
2 0.925 0.080 7 45921122 missense variant T/C snv 1.0E-05 0.010 1.000 1 2008 2008
dbSNP: rs2167270
rs2167270
LEP
17 0.724 0.280 7 128241296 5 prime UTR variant G/A snv 0.37 0.010 1.000 1 2008 2008
dbSNP: rs2270916
rs2270916
CASR
6 0.851 0.120 3 122282252 intron variant T/C snv 0.13 0.11 0.010 1.000 1 2008 2008