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: rs779315943
rs779315943
DNMT3A
0.882 0.160 2 25247708 frameshift variant TTTCC/- del
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2015 2015
dbSNP: rs1057519695
rs1057519695
NRAS
0.641 0.520 1 114713907 missense variant TT/CA;CC mnv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2019 2019
dbSNP: rs63750953
rs63750953
HBB
0.790 0.400 11 5227097 5 prime UTR variant TT/- delins 7.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2015 2015
dbSNP: rs1057519848
rs1057519848
EGFR
0.570 0.560 7 55191822 missense variant TG/GT mnv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.030 1.000 3 2012 2017
dbSNP: rs1057519834
rs1057519834
NRAS
0.658 0.480 1 114713908 missense variant TG/CT mnv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2019 2019
dbSNP: rs863224501
rs863224501
MUTYH
0.925 0.160 1 45331519 frameshift variant TCACGGACGGG/- delins 2.1E-05
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2012 2012
dbSNP: rs886039925
rs886039925
BRCA1
1.000 17 43094481 frameshift variant TC/- delins
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2010 2010
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: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.100 1.000 20 2002 2018
dbSNP: rs2279744
rs2279744
MDM2
0.605 0.640 12 68808800 intron variant T/G snv 0.31
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.090 1.000 9 2011 2019
dbSNP: rs20576
rs20576
TNFRSF10A
0.637 0.400 8 23200707 missense variant T/G snv 0.15 0.14
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.040 1.000 4 2009 2014
dbSNP: rs3212227
rs3212227
IL12B
0.566 0.840 5 159315942 3 prime UTR variant T/G snv 0.26
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.040 1.000 4 2009 2017
dbSNP: rs2243115
rs2243115
IL12A ; IL12A-AS1
0.776 0.320 3 159988493 intron variant T/G snv 0.10
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.030 0.667 3 2009 2017
dbSNP: rs35866072
rs35866072
MMP8
0.716 0.360 11 102713373 missense variant T/G snv 6.0E-02 9.8E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.030 1.000 3 2018 2019
dbSNP: rs78378222
rs78378222
TP53
0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.030 1.000 3 2013 2016
dbSNP: rs11556218
rs11556218
IL16
0.653 0.600 15 81305928 missense variant T/G snv 9.6E-02 0.12
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 1.000 2 2014 2014
dbSNP: rs2705897
rs2705897
CASP3
0.925 0.080 4 184631944 splice region variant T/G snv 0.64 0.73
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 1.000 2 2013 2018
dbSNP: rs5361
rs5361
SELE ; C1orf112
0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 0.500 2 2010 2014
dbSNP: rs10248565
rs10248565
HDAC9
1.000 0.040 7 18935100 intron variant T/G snv 0.14
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2014 2014
dbSNP: rs112690925
rs112690925
HRAS ; LRRC56
11 535098 intron variant T/G snv 0.25
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2016 2016
dbSNP: rs11337
rs11337
GOLGA7
0.925 0.120 8 41510767 3 prime UTR variant T/G snv 0.93
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2014 2014
dbSNP: rs11860248
rs11860248
RBBP6
0.882 0.040 16 24566445 intron variant T/G snv 0.27
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2014 2014
dbSNP: rs12212067
rs12212067
FOXO3
0.716 0.320 6 108659993 intron variant T/G snv 0.14
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2018 2018
dbSNP: rs1800872
rs1800872
IL10 ; IL19
0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2013 2013
dbSNP: rs2149356
rs2149356
TLR4
0.742 0.360 9 117711921 intron variant T/G snv 0.54
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2013 2013