Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1051740
rs1051740
EPHX1
0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.050 0.400 5 1996 2014
dbSNP: rs1800709
rs1800709
BRCA1
0.851 0.160 17 43093010 missense variant G/A snv 1.7E-03 1.4E-03
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 1.000 2 1996 1998
dbSNP: rs63750217
rs63750217
MLH1
0.807 0.240 3 37048955 missense variant G/A;C snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 1996 1996
dbSNP: rs63751002
rs63751002
MSH2
2 47476405 missense variant A/G snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 1996 1996
dbSNP: rs1799930
rs1799930
NAT2
0.716 0.400 8 18400593 missense variant G/A snv 0.27 0.27
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.030 1.000 3 1997 2014
dbSNP: rs1799931
rs1799931
NAT2
0.742 0.320 8 18400860 missense variant G/A snv 5.8E-02 3.9E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 1.000 2 1997 2014
dbSNP: rs149308960
rs149308960
ESR1
0.925 0.080 6 151842622 missense variant G/A;C;T snv 4.0E-06; 4.0E-06; 1.6E-03
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 1997 1997
dbSNP: rs1799929
rs1799929
NAT2
0.776 0.240 8 18400484 synonymous variant C/T snv 0.36 0.36
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 1997 1997
dbSNP: rs1463038513
rs1463038513
APC
0.658 0.440 5 112839511 frameshift variant TAAA/- delins
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.100 0.813 16 1998 2016
dbSNP: rs1801155
rs1801155
APC
0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.100 0.813 16 1998 2016
dbSNP: rs28897672
rs28897672
BRCA1
0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 1.000 2 1998 2011
dbSNP: rs1171303257
rs1171303257
ALB
4 73410405 missense variant G/C snv 4.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 1998 1998
dbSNP: rs1322051434
rs1322051434
APC
5 112838427 missense variant A/T snv 7.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 1998 1998
dbSNP: rs587782529
rs587782529
TP53
0.851 0.200 17 7670700 missense variant G/A;C snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 1998 1998
dbSNP: rs1188383936
rs1188383936
F2
0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 0.500 2 1999 2015
dbSNP: rs751377893
rs751377893
F5
0.574 0.680 1 169546513 missense variant T/C snv 4.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 1999 1999
dbSNP: rs899127658
rs899127658
F2
0.547 0.720 11 46739084 missense variant G/A;C snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 1999 1999
dbSNP: rs748876625
rs748876625
BRCA1
0.807 0.160 17 43104122 missense variant C/A;G snv 1.2E-05
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 1.000 2 2000 2005
dbSNP: rs137852593
rs137852593
AR
0.827 0.160 X 67717484 missense variant G/A;C;T snv 2.2E-05; 1.1E-05; 9.1E-04
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2000 2000
dbSNP: rs1801282
rs1801282
PPARG
0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.070 1.000 7 2001 2014
dbSNP: rs1805192
rs1805192
PPARG
0.510 0.840 3 12379739 missense variant C/G snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.050 1.000 5 2001 2010
dbSNP: rs377767397
rs377767397
RET
0.790 0.280 10 43113628 missense variant G/A;C;T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2001 2001
dbSNP: rs377767398
rs377767398
RET
0.807 0.280 10 43113628 missense variant GC/AT;CT;TT mnv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2001 2001
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.100 0.986 69 2002 2020
dbSNP: rs121913377
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.100 0.985 68 2002 2020