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: rs1477196
rs1477196
FTO
0.851 0.200 16 53774346 intron variant A/G snv 0.71
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 < 0.001 2 2013 2017
dbSNP: rs149642280
rs149642280
KLC1 ; XRCC3
14 103699501 missense variant C/T snv 1.0E-04; 4.0E-06 3.5E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 < 0.001 2 2003 2006
dbSNP: rs3020450
rs3020450
ESR2
0.807 0.200 14 64301584 splice region variant C/A;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 < 0.001 2 2014 2019
dbSNP: rs560191
rs560191
TP53BP1
0.763 0.280 15 43475576 missense variant G/C;T snv 0.36; 4.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 < 0.001 2 2011 2014
dbSNP: rs5743708
rs5743708
TLR2
0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 < 0.001 2 2013 2019
dbSNP: rs699
rs699
AGT
0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 < 0.001 2 2008 2015
dbSNP: rs713330
rs713330
CD44
1.000 0.040 11 35202398 intron variant C/T snv 0.74
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 < 0.001 2 2016 2016
dbSNP: rs786203797
rs786203797
BRCA1
17 43095876 missense variant C/A;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 < 0.001 2 2003 2006
dbSNP: rs10109984
rs10109984
PRKDC
0.925 0.080 8 47891114 intron variant T/C snv 0.54
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 < 0.001 1 2013 2013
dbSNP: rs10175368
rs10175368
CYP1B1 ; CYP1B1-AS1
0.925 0.080 2 38080719 intron variant C/T snv 0.23
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 < 0.001 1 2018 2018
dbSNP: rs1019340046
rs1019340046
TP53
0.882 0.080 17 7674225 missense variant C/T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 < 0.001 1 1993 1993
dbSNP: rs10486567
rs10486567
JAZF1
0.851 0.120 7 27936944 intron variant G/A snv 0.28
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 < 0.001 1 2010 2010
dbSNP: rs10739971
rs10739971
MIRLET7A1 ; MIRLET7F1
0.882 0.080 9 94175398 intron variant G/A;C snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 < 0.001 1 2018 2018
dbSNP: rs10836347
rs10836347
CD44
1.000 0.080 11 35231586 3 prime UTR variant C/T snv 0.11
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 < 0.001 1 2016 2016
dbSNP: rs10937405
rs10937405
TP63
0.807 0.080 3 189665394 intron variant C/T snv 0.38
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 < 0.001 1 2011 2011
dbSNP: rs11196418
rs11196418
CASP7
0.925 0.080 10 113678707 upstream gene variant G/A snv 0.11
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 < 0.001 1 2013 2013
dbSNP: rs113686495
rs113686495
CASP8
0.925 0.160 2 201258757 intron variant ATTCTGTC/- delins
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 < 0.001 1 2013 2013
dbSNP: rs1141718
rs1141718
SOD2
0.724 0.280 6 159688224 missense variant A/G snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 < 0.001 1 2013 2013
dbSNP: rs11544193
rs11544193
GSPT1 ; LOC112268177
16 11915447 missense variant C/A snv 0.48 0.43
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 < 0.001 1 2005 2005
dbSNP: rs11571707
rs11571707
BRCA2
0.851 0.200 13 32356461 missense variant T/C snv 1.9E-02 8.5E-03
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 < 0.001 1 2010 2010
dbSNP: rs121912679
rs121912679
ACVR1
1.000 0.040 2 157761077 missense variant C/T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 < 0.001 1 2014 2014
dbSNP: rs12233719
rs12233719
UGT2B7
4 69096731 missense variant G/A;C;T snv 1.6E-05; 1.6E-05; 1.4E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 < 0.001 1 2019 2019
dbSNP: rs12532
rs12532
MSX1
0.790 0.200 4 4863419 3 prime UTR variant A/G snv 0.36
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 < 0.001 1 2014 2014
dbSNP: rs1260256848
rs1260256848
BRD2
6 32976634 missense variant G/T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 < 0.001 1 2006 2006
dbSNP: rs1267969615
rs1267969615
ACE
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 < 0.001 1 2008 2008