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: rs1463038513
rs1463038513
APC
0.658 0.440 5 112839511 frameshift variant TAAA/- delins
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.020 1.000 2 1998 2007
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: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.020 1.000 2 1998 2007
dbSNP: rs121909174
rs121909174
SLC5A5
0.925 0.120 19 17881961 missense variant A/C snv 1.2E-05
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 1998 1998
dbSNP: rs138106763
rs138106763
SLC12A9
1.000 0.040 7 100857102 missense variant A/G snv 7.2E-05 1.2E-04
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 1998 1998
dbSNP: rs866551255
rs866551255
CDKN1A
1.000 0.040 6 36684145 missense variant G/A snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 1998 1998
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.100 0.875 16 2001 2014
dbSNP: rs1805007
rs1805007
MC1R
0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2001 2001
dbSNP: rs35187787
rs35187787
CDH1
0.827 0.120 16 68822063 missense variant G/A;T snv 3.3E-03; 2.4E-05
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2001 2001
dbSNP: rs11547328
rs11547328
CDK4
0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.020 0.500 2 2002 2003
dbSNP: rs771138120
rs771138120
CDKN2A
0.827 0.120 9 21971191 missense variant G/A;C;T snv 9.1E-06; 4.5E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.020 0.500 2 2002 2003
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.100 0.907 43 2003 2019
dbSNP: rs121913377
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.100 0.929 42 2003 2019
dbSNP: rs121913529
rs121913529
KRAS
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.100 0.857 14 2003 2016
dbSNP: rs1799782
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.030 1.000 3 2003 2005
dbSNP: rs1048943
rs1048943
CYP1A1
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.020 1.000 2 2003 2008
dbSNP: rs1801166
rs1801166
APC
0.732 0.200 5 112839543 missense variant G/C snv 4.4E-03 5.6E-03
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.020 1.000 2 2003 2009
dbSNP: rs121913507
rs121913507
KIT
0.614 0.400 4 54733155 missense variant A/T snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2003 2003
dbSNP: rs121913682
rs121913682
KIT
0.605 0.400 4 54733167 missense variant A/G;T snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2003 2003
dbSNP: rs121965039
rs121965039
OAT
0.851 0.160 10 124408601 missense variant C/A;T snv 8.0E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2003 2003
dbSNP: rs146755810
rs146755810
OAT
0.882 0.080 10 124412125 missense variant C/G;T snv 2.4E-05; 3.2E-05
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2003 2003
dbSNP: rs17227424
rs17227424
FANCA ; ZNF276
16 89738216 missense variant G/A;C snv 1.3E-05; 3.6E-02
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2003 2003
dbSNP: rs25487
rs25487
XRCC1
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.030 0.667 3 2004 2011
dbSNP: rs121912664
rs121912664
TP53
0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.050 1.000 5 2005 2018
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.040 1.000 4 2005 2019
dbSNP: rs28934576
rs28934576
TP53
0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.040 1.000 4 2005 2018