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: rs41274221
rs41274221
MCM7 ; MIR106B ; MIR25 ; MIR93
0.851 0.160 7 100093577 mature miRNA variant C/T snv 6.4E-05 4.9E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2016 2016
dbSNP: rs386834266
rs386834266
YY1 ; MIR6764
1.000 0.120 14 100277470 missense variant C/G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2015 2015
dbSNP: rs780673010
rs780673010
RNF19A
8 100288040 missense variant C/G snv 4.0E-06 5.6E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2018 2018
dbSNP: rs754533102
rs754533102
PKD2L1
1.000 0.080 10 100299692 missense variant C/T snv 6.0E-05 7.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2014 2014
dbSNP: rs765576835
rs765576835
FANCD2
0.882 0.200 3 10036306 missense variant T/C snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2007 2007
dbSNP: rs10165970
rs10165970
NPAS2
0.708 0.320 2 100840527 intron variant G/A snv 0.16
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2017 2017
dbSNP: rs17024869
rs17024869
NPAS2
0.708 0.320 2 100843581 intron variant T/C snv 8.3E-02
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2017 2017
dbSNP: rs7158663
rs7158663
MEG3
0.827 0.240 14 100853087 non coding transcript exon variant A/G snv 0.42
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 < 0.001 1 2016 2016
dbSNP: rs34012126
rs34012126
SLC12A9
7 100855831 frameshift variant G/- delins
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 1999 1999
dbSNP: rs895520
rs895520
NPAS2
0.689 0.320 2 100961475 intron variant G/A snv 0.35
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2017 2017
dbSNP: rs7581886
rs7581886
NPAS2
0.708 0.320 2 100964784 intron variant C/T snv 0.92
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2017 2017
dbSNP: rs2305160
rs2305160
NPAS2 ; NPAS2-AS1
0.776 0.200 2 100974842 missense variant A/G snv 0.71 0.75
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2010 2010
dbSNP: rs4919510
rs4919510
SEMA4G ; MRPL43 ; MIR608
0.641 0.520 10 100975021 mature miRNA variant C/G snv 0.27 0.27
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 1.000 2 2015 2016
dbSNP: rs1456079929
rs1456079929
PGR
0.851 0.120 11 101042001 missense variant C/A snv 8.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2001 2001
dbSNP: rs1293387481
rs1293387481
PGR
0.925 0.080 11 101062537 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2009 2009
dbSNP: rs759862685
rs759862685
PGR ; PGR-AS1
11 101127694 missense variant C/G;T snv 1.5E-04
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2004 2004
dbSNP: rs1408080623
rs1408080623
PGR ; PGR-AS1
0.851 0.080 11 101128058 missense variant G/A snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2015 2015
dbSNP: rs776880789
rs776880789
PGR ; PGR-AS1
0.925 0.080 11 101128241 missense variant G/C;T snv 4.7E-06; 4.7E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2006 2006
dbSNP: rs1057519825
rs1057519825
BTK
0.882 0.120 X 101356176 missense variant C/G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 1.000 2 2018 2019
dbSNP: rs1057519826
rs1057519826
BTK
0.882 0.120 X 101356177 missense variant A/T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 1.000 2 2018 2019
dbSNP: rs104893829
rs104893829
VHL
0.882 0.240 3 10142088 missense variant C/T snv 2.0E-04 3.8E-04
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.720 1.000 2 2013 2017
dbSNP: rs5030809
rs5030809
VHL
0.776 0.320 3 10142139 missense variant T/C snv 1.3E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2013 2013
dbSNP: rs780178275
rs780178275
VHL
0.851 0.200 3 10146586 missense variant C/T snv 8.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2013 2013
dbSNP: rs28940297
rs28940297
VHL
0.882 0.240 3 10149811 missense variant T/C;G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 1.000 2 2002 2004
dbSNP: rs5030821
rs5030821
VHL
0.827 0.280 3 10149823 missense variant G/A;C;T snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 1.000 2 2009 2014