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: rs217727
rs217727
MRPL23 ; H19 ; HOTS
0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.050 0.800 5 2016 2019
dbSNP: rs2228000
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.050 1.000 5 2008 2019
dbSNP: rs2279115
rs2279115
BCL2
0.724 0.320 18 63319604 5 prime UTR variant G/A;T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.050 1.000 5 2014 2017
dbSNP: rs2296147
rs2296147
ERCC5 ; BIVM-ERCC5
0.695 0.280 13 102846025 5 prime UTR variant T/C snv 0.38
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.050 1.000 5 2012 2017
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.050 1.000 5 2009 2018
dbSNP: rs28362491
rs28362491
NFKB1 ; LOC105377621
0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.050 1.000 5 2011 2017
dbSNP: rs34637584
rs34637584
LRRK2
0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.050 0.800 5 2010 2020
dbSNP: rs3804099
rs3804099
TLR2
0.627 0.680 4 153703504 synonymous variant T/C snv 0.40 0.48
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.050 0.800 5 2012 2019
dbSNP: rs3804100
rs3804100
TLR2
0.633 0.720 4 153704257 synonymous variant T/C snv 9.0E-02 6.7E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.050 0.600 5 2012 2019
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: rs854560
rs854560
PON1
0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.050 1.000 5 2012 2019
dbSNP: rs874945
rs874945 		0.732 0.240 12 53961667 upstream gene variant C/T snv 0.38
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.050 0.400 5 2017 2019
dbSNP: rs1045485
rs1045485
CASP8
0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.040 0.750 4 2010 2014
dbSNP: rs1047840
rs1047840
EXO1
0.708 0.280 1 241878999 missense variant G/A snv 0.36 0.40
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.040 0.750 4 2012 2016
dbSNP: rs1059234
rs1059234
CDKN1A
0.790 0.120 6 36685820 3 prime UTR variant C/T snv 0.15 0.13
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.040 1.000 4 2005 2015
dbSNP: rs11134527
rs11134527
SLIT3 ; MIR218-2
0.677 0.400 5 168768351 intron variant G/A snv 0.25
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.040 0.750 4 2014 2018
dbSNP: rs1137101
rs1137101
LEPR
0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.040 0.250 4 2012 2019
dbSNP: rs1138272
rs1138272
GSTP1
0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.040 1.000 4 2009 2018
dbSNP: rs11540652
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.040 1.000 4 2010 2019
dbSNP: rs11568820
rs11568820
VDR
0.672 0.480 12 47908762 intron variant C/T snv 0.38
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.040 1.000 4 2007 2018
dbSNP: rs11568821
rs11568821
PDCD1 ; LOC105373977
0.827 0.200 2 241851760 intron variant C/G;T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.040 0.750 4 2016 2019
dbSNP: rs121913530
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.040 1.000 4 2012 2020
dbSNP: rs1302103336
rs1302103336
CHEK1
0.776 0.120 11 125637491 missense variant T/C snv 8.1E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.040 1.000 4 2010 2013
dbSNP: rs1353702185
rs1353702185
MDM2
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.040 1.000 4 2007 2019
dbSNP: rs138213197
rs138213197
HOXB13
0.701 0.240 17 48728343 missense variant C/T snv 1.8E-03 1.6E-03
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.040 0.750 4 2013 2015