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: rs375526265
rs375526265
14 20457260 missense variant C/T snv 1.2E-05 2.8E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.030 1.000 3 2001 2017
dbSNP: rs1201894677
rs1201894677
6 43770833 missense variant G/A snv 1.6E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.020 1.000 2 2015 2015
dbSNP: rs1610216
rs1610216
16 56608372 upstream gene variant A/G snv 0.30
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.020 1.000 2 2014 2015
dbSNP: rs16861205
rs16861205
3 186843845 intron variant G/A snv 0.14
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.020 1.000 2 2011 2013
dbSNP: rs774905136
rs774905136
7 55156555 synonymous variant T/C snv 5.6E-05 1.4E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.020 1.000 2 2014 2016
dbSNP: rs1003129577
rs1003129577
3 39094706 missense variant G/C snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 2015 2015
dbSNP: rs1020833107
rs1020833107
9 132398145 synonymous variant G/A snv 7.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 2017 2017
dbSNP: rs10269422
rs10269422
7 18814978 intron variant T/A snv 0.46
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 2014 2014
dbSNP: rs1041326
rs1041326
9 87541931 intron variant C/T snv 0.14
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 2019 2019
dbSNP: rs1045315350
rs1045315350
21 45456344 missense variant C/A snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 2006 2006
dbSNP: rs1051554521
rs1051554521
5 151128211 missense variant G/A snv 2.0E-04 7.0E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 2014 2014
dbSNP: rs1056719
rs1056719
9 87707108 missense variant G/A snv 0.67 0.59
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 2007 2007
dbSNP: rs1057519761
rs1057519761
KIT
4 54733175 missense variant T/G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 2019 2019
dbSNP: rs1057519827
rs1057519827
6 152011697 missense variant G/C snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 2017 2017
dbSNP: rs1057519976
rs1057519976
17 7675207 missense variant G/A;C snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 2019 2019
dbSNP: rs1057522527
rs1057522527
17 43076544 synonymous variant C/T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 2005 2005
dbSNP: rs10788160
rs10788160
10 121274035 intergenic variant G/A snv 0.19
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 2014 2014
dbSNP: rs10878640
rs10878640
12 67643308 intergenic variant G/T snv 0.32
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 2010 2010
dbSNP: rs111472069
rs111472069
16 84165838 missense variant C/G snv 2.0E-02 3.1E-02
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 2013 2013
dbSNP: rs11177644
rs11177644
12 69391968 downstream gene variant A/G snv 0.40
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 2011 2011
dbSNP: rs11203495
rs11203495
8 13499310 missense variant T/G snv 0.85; 4.0E-06 0.85
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 2015 2015
dbSNP: rs113866835
rs113866835
ALK
2 29220897 3 prime UTR variant T/C snv 3.8E-03
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 2016 2016
dbSNP: rs1138908
rs1138908
12 49008516 5 prime UTR variant G/C snv 0.43
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 2019 2019
dbSNP: rs11549340
rs11549340
12 6537117 missense variant G/C;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 2012 2012
dbSNP: rs1156469937
rs1156469937
2 237708614 missense variant A/G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 2009 2009