Source: BEFREE

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: rs1801282
rs1801282
PPARG
0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.070 1.000 7 2001 2014
dbSNP: rs1805192
rs1805192
PPARG
0.510 0.840 3 12379739 missense variant C/G snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.050 1.000 5 2001 2010
dbSNP: rs377767397
rs377767397
RET
0.790 0.280 10 43113628 missense variant G/A;C;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2001 2001
dbSNP: rs377767398
rs377767398
RET
0.807 0.280 10 43113628 missense variant GC/AT;CT;TT mnv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2001 2001
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 0.990 98 2002 2020
dbSNP: rs121913377
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 0.989 95 2002 2020
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 0.933 45 2002 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 0.976 41 2002 2019
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 0.923 39 2002 2019
dbSNP: rs878854066
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 0.923 39 2002 2019
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 1.000 24 2002 2018
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 0.955 22 2002 2018
dbSNP: rs1799782
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 0.917 12 2002 2019
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 0.909 11 2002 2015
dbSNP: rs1799793
rs1799793
ERCC2
0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 0.909 11 2002 2017
dbSNP: rs144848
rs144848
BRCA2
0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.060 1.000 6 2002 2017
dbSNP: rs1326656542
rs1326656542
LIG4
0.776 0.280 13 108210293 missense variant A/T snv 4.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.030 1.000 3 2002 2014
dbSNP: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 1.000 2 2002 2006
dbSNP: rs7439366
rs7439366
UGT2B7
0.752 0.320 4 69098620 missense variant T/C snv 0.56 0.57
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 1.000 2 2002 2018
dbSNP: rs1057520247
rs1057520247
BRCA2
0.882 0.200 13 32326591 synonymous variant C/T snv 7.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2002 2002
dbSNP: rs11547328
rs11547328
CDK4
0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2002 2002
dbSNP: rs1271401320
rs1271401320
IFNA1
1.000 0.120 9 21440749 missense variant A/G snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2002 2002
dbSNP: rs1314386070
rs1314386070
DECR1
0.827 0.240 8 90042766 missense variant T/C snv 1.4E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2002 2002
dbSNP: rs200111236
rs200111236
G6PD
0.882 0.200 X 154534463 missense variant G/A;C snv 2.8E-04; 5.5E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2002 2002
dbSNP: rs374019283
rs374019283
FANCD2
0.882 0.200 3 10039759 synonymous variant T/C snv 4.0E-05 2.2E-04
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2002 2002