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: rs771138120
rs771138120
CDKN2A
0.827 0.120 9 21971191 missense variant G/A;C;T snv 9.1E-06; 4.5E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2002 2002
dbSNP: rs771314938
rs771314938
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A9
0.807 0.160 2 233682328 frameshift variant CG/- del
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2002 2002
dbSNP: rs78478128
rs78478128
G6PD
0.851 0.160 X 154536168 missense variant G/C snv 1.7E-04 1.1E-04
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2002 2002
dbSNP: rs865862446
rs865862446
FANCD2
0.882 0.200 3 10049416 missense variant G/A snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2002 2002
dbSNP: rs879625015
rs879625015
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A9
0.807 0.160 2 233682328 frameshift variant CG/A delins
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2002 2002
dbSNP: rs941759532
rs941759532
ERCC4
0.763 0.240 16 13932175 missense variant C/G snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2002 2002
dbSNP: rs25487
rs25487
XRCC1
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.100 0.800 15 2003 2017
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.090 1.000 9 2003 2016
dbSNP: rs1048943
rs1048943
CYP1A1
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.050 1.000 5 2003 2019
dbSNP: rs149642280
rs149642280
KLC1 ; XRCC3
14 103699501 missense variant C/T snv 1.0E-04; 4.0E-06 3.5E-05
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 < 0.001 2 2003 2006
dbSNP: rs786203797
rs786203797
BRCA1
17 43095876 missense variant C/A;T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 < 0.001 2 2003 2006
dbSNP: rs4987046
rs4987046
BRCA2
0.925 0.160 13 32319134 missense variant A/G snv 1.6E-03 1.6E-03
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2003 2003
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.100 0.846 13 2004 2019
dbSNP: rs25489
rs25489
XRCC1
0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.100 0.800 10 2004 2019
dbSNP: rs1042028
rs1042028
SULT1A1
0.658 0.440 16 28606193 missense variant C/T snv 0.22 0.30
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.060 1.000 6 2004 2014
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.060 1.000 6 2004 2016
dbSNP: rs9282861
rs9282861
SULT1A1
0.658 0.440 16 28606193 missense variant C/T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.060 1.000 6 2004 2014
dbSNP: rs486907
rs486907
RNASEL
0.667 0.360 1 182585422 missense variant C/T snv 0.31 0.28
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.050 1.000 5 2004 2019
dbSNP: rs3218536
rs3218536
XRCC2
0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.030 0.667 3 2004 2014
dbSNP: rs16941
rs16941
BRCA1
0.827 0.240 17 43092418 missense variant T/C;G snv 0.35
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 1.000 2 2004 2018
dbSNP: rs17107315
rs17107315
SPINK1
0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 1.000 2 2004 2019
dbSNP: rs34767364
rs34767364
NBN
0.701 0.280 8 89971232 missense variant G/A;C snv 2.5E-03
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 1.000 2 2004 2013
dbSNP: rs63750875
rs63750875
MSH2
0.742 0.280 2 47475171 missense variant G/A;C snv 1.6E-05
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 1.000 2 2004 2008
dbSNP: rs121908568
rs121908568
AXIN2
0.807 0.160 17 65536495 stop gained G/A snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2004 2004
dbSNP: rs1223231582
rs1223231582
PRSS1
0.677 0.280 7 142750639 missense variant A/G snv 7.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2004 2004