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: rs1019340046
rs1019340046
TP53
4 0.882 0.080 17 7674225 missense variant C/T snv 0.010 < 0.001 1 1993 1993
dbSNP: rs750600586
rs750600586
TP53
3 17 7675199 missense variant G/A;T snv 0.010 1.000 1 1993 1993
dbSNP: rs876660829
rs876660829
TP53
2 17 7673598 missense variant G/C;T snv 8.0E-06 0.010 1.000 1 1993 1993
dbSNP: rs63750217
rs63750217
MLH1
4 0.807 0.240 3 37048955 missense variant G/A;C snv 0.010 1.000 1 1996 1996
dbSNP: rs63751002
rs63751002
MSH2
2 2 47476405 missense variant A/G snv 0.010 1.000 1 1996 1996
dbSNP: rs149308960
rs149308960
ESR1
4 0.925 0.080 6 151842622 missense variant G/A;C;T snv 4.0E-06; 4.0E-06; 1.6E-03 0.010 1.000 1 1997 1997
dbSNP: rs1799929
rs1799929
NAT2
11 0.776 0.240 8 18400484 synonymous variant C/T snv 0.36 0.36 0.010 1.000 1 1997 1997
dbSNP: rs1800709
rs1800709
BRCA1
5 0.851 0.160 17 43093010 missense variant G/A snv 1.7E-03 1.4E-03 0.020 1.000 2 1996 1998
dbSNP: rs1171303257
rs1171303257
ALB
2 4 73410405 missense variant G/C snv 4.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs1322051434
rs1322051434
APC
2 5 112838427 missense variant A/T snv 7.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs587782529
rs587782529
TP53
6 0.851 0.200 17 7670700 missense variant G/A;C snv 0.010 1.000 1 1998 1998
dbSNP: rs141425171
rs141425171
AR
2 1.000 0.160 X 67717574 missense variant A/G;T snv 2.2E-05; 5.5E-06 0.010 1.000 1 1999 1999
dbSNP: rs751377893
rs751377893
F5
65 0.574 0.680 1 169546513 missense variant T/C snv 4.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs899127658
rs899127658
F2
82 0.547 0.720 11 46739084 missense variant G/A;C snv 0.010 1.000 1 1999 1999
dbSNP: rs137852593
rs137852593
AR
7 0.827 0.160 X 67717484 missense variant G/A;C;T snv 2.2E-05; 1.1E-05; 9.1E-04 0.010 1.000 1 2000 2000
dbSNP: rs377767397
rs377767397
RET
7 0.790 0.280 10 43113628 missense variant G/A;C;T snv 0.010 1.000 1 2001 2001
dbSNP: rs377767398
rs377767398
RET
7 0.807 0.280 10 43113628 missense variant GC/AT;CT;TT mnv 0.010 1.000 1 2001 2001
dbSNP: rs1057520247
rs1057520247
BRCA2
5 0.882 0.200 13 32326591 synonymous variant C/T snv 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs11547328
rs11547328
CDK4
22 0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs1271401320
rs1271401320
IFNA1
3 1.000 0.120 9 21440749 missense variant A/G snv 0.010 1.000 1 2002 2002
dbSNP: rs1314386070
rs1314386070
DECR1
9 0.827 0.240 8 90042766 missense variant T/C snv 1.4E-05 0.010 1.000 1 2002 2002
dbSNP: rs200111236
rs200111236
G6PD
5 0.882 0.200 X 154534463 missense variant G/A;C snv 2.8E-04; 5.5E-06 0.010 1.000 1 2002 2002
dbSNP: rs374019283
rs374019283
FANCD2
5 0.882 0.200 3 10039759 synonymous variant T/C snv 4.0E-05 2.2E-04 0.010 1.000 1 2002 2002
dbSNP: rs386656364
rs386656364
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A9
8 0.807 0.160 2 233682328 missense variant CG/AA mnv 0.010 1.000 1 2002 2002
dbSNP: rs386675647
rs386675647
UGT2B7
10 0.790 0.240 4 69098619 missense variant AT/TC mnv 0.010 1.000 1 2002 2002