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: rs9939609
rs9939609
FTO
0.559 0.720 16 53786615 intron variant T/A snv 0.41
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2011 2011
dbSNP: rs9471643
rs9471643
PGC
0.882 0.080 6 41751177 intron variant G/C snv 0.19
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2016 2016
dbSNP: rs944289
rs944289 		0.742 0.200 14 36180040 upstream gene variant C/T snv 0.45
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2015 2015
dbSNP: rs942158624
rs942158624
TP53
0.724 0.320 17 7674948 missense variant T/A snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2017 2017
dbSNP: rs9344
rs9344
CCND1
0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2011 2011
dbSNP: rs9282861
rs9282861
SULT1A1
0.658 0.440 16 28606193 missense variant C/T snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2014 2014
dbSNP: rs920778
rs920778
HOTAIR
0.633 0.480 12 53966448 intron variant G/A snv 0.57
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 < 0.001 1 2015 2015
dbSNP: rs9138
rs9138
SPP1
0.776 0.360 4 87983190 3 prime UTR variant A/C;T snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2017 2017
dbSNP: rs895819
rs895819
LOC284454 ; MIR23A ; MIR24-2 ; MIR27A
0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.030 0.667 3 2012 2019
dbSNP: rs887303970
rs887303970
SOD3
0.776 0.280 4 24799565 missense variant C/T snv 8.8E-06 7.0E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2007 2007
dbSNP: rs879253942
rs879253942
TP53
0.677 0.400 17 7673826 missense variant A/G snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2014 2014
dbSNP: rs878854066
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.050 1.000 5 2008 2016
dbSNP: rs876658657
rs876658657
MLH1
0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.020 1.000 2 2008 2011
dbSNP: rs868438023
rs868438023
KNSTRN
0.882 0.080 15 40382906 missense variant C/T snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2014 2014
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: rs863225281
rs863225281
ALK
0.776 0.200 2 29220829 missense variant G/C;T snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.020 1.000 2 2014 2019
dbSNP: rs863224683
rs863224683
TP53
17 7675224 missense variant G/A;C snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2013 2013
dbSNP: rs863224682
rs863224682
TP53
1.000 0.080 17 7669655 missense variant C/A;T snv 4.0E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2014 2014
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2014 2014
dbSNP: rs8034191
rs8034191
HYKK
0.695 0.440 15 78513681 intron variant T/C snv 0.27
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2014 2014
dbSNP: rs80291436
rs80291436
VCX
1.000 0.080 X 7843706 missense variant T/A;C;G snv 4.9E-05; 0.19
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2017 2017
dbSNP: rs798766
rs798766
TACC3
0.851 0.120 4 1732512 intron variant T/C snv 0.76
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2015 2015
dbSNP: rs7853122
rs7853122
RAPGEF1
0.925 0.080 9 131705224 intron variant C/T snv 0.87
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2011 2011
dbSNP: rs78311289
rs78311289
FGFR3
0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2013 2013
dbSNP: rs781490101
rs781490101
TP53
0.851 0.040 17 7673748 missense variant T/C snv 8.0E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2019 2019