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: rs1057519992
rs1057519992
0.742 0.400 17 7674890 missense variant T/A;C;G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.020 1.000 2 1991 2008
dbSNP: rs587778720
rs587778720
0.667 0.360 17 7674893 missense variant C/A;G;T snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 1992 1992
dbSNP: rs121908859
rs121908859
1.000 0.040 14 81143914 missense variant A/G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 1993 1993
dbSNP: rs28934576
rs28934576
0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.780 1.000 8 1995 2020
dbSNP: rs1801270
rs1801270
0.689 0.400 6 36684194 missense variant C/A;T snv 0.15; 4.4E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.030 1.000 3 1995 2016
dbSNP: rs1057520001
rs1057520001
0.677 0.360 17 7674886 missense variant A/C;G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 1995 1995
dbSNP: rs139085046
rs139085046
7 141972869 missense variant C/T snv 1.6E-04 1.7E-04
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 1995 1995
dbSNP: rs147506929
rs147506929
NF2
22 29678208 missense variant A/C;G snv 8.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 1995 1995
dbSNP: rs200246711
rs200246711
2 219216057 missense variant C/A;T snv 2.0E-04
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 1995 1995
dbSNP: rs536976542
rs536976542
20 58854270 missense variant G/A;T snv 8.2E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 1995 1995
dbSNP: rs76262710
rs76262710
RET
0.724 0.280 10 43113648 missense variant T/A;C;G snv 4.0E-06; 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 1995 1995
dbSNP: rs770251749
rs770251749
1.000 0.120 6 54121506 missense variant A/C snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 1995 1995
dbSNP: rs79781594
rs79781594
RET
0.732 0.160 10 43113649 missense variant G/A;C;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 1995 1995
dbSNP: rs886039484
rs886039484
0.641 0.440 17 7674888 missense variant T/C;G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 1995 1995
dbSNP: rs2229080
rs2229080
DCC
0.742 0.320 18 52906232 missense variant C/A;G snv 0.45
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.020 0.500 2 1997 2004
dbSNP: rs2227564
rs2227564
0.763 0.320 10 73913343 missense variant T/C snv 0.75 0.81
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 1997 1997
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: C0027651
Disease: Neoplasms
Neoplasms
0.100 0.846 13 1998 2014
dbSNP: rs1463038513
rs1463038513
APC
0.658 0.440 5 112839511 frameshift variant TAAA/- delins
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 0.917 12 1998 2013
dbSNP: rs121913412
rs121913412
0.724 0.280 3 41224633 missense variant A/C;G;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.070 1.000 7 1998 2019
dbSNP: rs3731249
rs3731249
0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.030 1.000 3 1998 2019
dbSNP: rs121913243
rs121913243
MET
0.827 0.160 7 116777410 missense variant A/C;G snv 1.2E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 1998 1998
dbSNP: rs121913403
rs121913403
0.683 0.240 3 41224622 missense variant C/A;G;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 1998 1998
dbSNP: rs137853296
rs137853296
RB1
1.000 0.080 13 48463758 missense variant T/C snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 1998 1998
dbSNP: rs17653265
rs17653265
1.000 0.040 6 121447605 missense variant C/T snv 8.1E-03 9.1E-03
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 1998 1998
dbSNP: rs749280481
rs749280481
0.925 0.160 11 2922102 missense variant G/A snv 1.3E-04 1.4E-04
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 1998 1998