Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 0.800 10 2010 2019
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 0.800 10 2010 2019
dbSNP: rs1057519855
rs1057519855
HRAS ; LRRC56
11 0.776 0.120 11 533873 missense variant CT/AC;TC mnv 0.010 1.000 1 2016 2016
dbSNP: rs1204382931
rs1204382931
CYP1B1 ; CYP1B1-AS1
10 0.790 0.160 2 38075270 missense variant A/C snv 4.3E-06 0.010 1.000 1 2017 2017
dbSNP: rs121434592
rs121434592
AKT1
54 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs121913233
rs121913233
HRAS ; LRRC56
37 0.627 0.520 11 533874 missense variant T/A;C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs121913500
rs121913500
IDH1
96 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1305315912
rs1305315912
VEGFA
2 1.000 0.080 6 43770736 synonymous variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs17235409
rs17235409
SLC11A1
31 0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06 0.010 < 0.001 1 2016 2016
dbSNP: rs1741981
rs1741981
HDAC1
2 1.000 0.080 1 32290838 upstream gene variant T/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs2227983
rs2227983
EGFR
31 0.658 0.520 7 55161562 missense variant G/A;C;T snv 0.29 0.010 1.000 1 2007 2007
dbSNP: rs2273535
rs2273535
AURKA
38 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 0.010 1.000 1 2012 2012
dbSNP: rs2830581
rs2830581
ADAMTS5
3 1.000 0.080 21 26921481 3 prime UTR variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs3917412
rs3917412
SELE ; C1orf112
4 1.000 0.040 1 169731361 intron variant T/A;C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs778264641
rs778264641
SND1
1 7 127686719 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs984502020
rs984502020
NR1I2
1 3 119807429 missense variant G/C snv 0.010 1.000 1 2010 2010
dbSNP: rs9926344
rs9926344
WWOX
2 1.000 0.080 16 78986883 intron variant G/A;C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs746830376
rs746830376
EPHB2
4 0.925 0.200 1 22784501 missense variant G/A snv 2.4E-05 3.5E-05 0.010 1.000 1 2016 2016
dbSNP: rs747489687
rs747489687
MCPH1
4 0.925 0.080 8 6444626 frameshift variant AAGAAATATTGCA/- delins 2.3E-04 1.0E-04 0.010 1.000 1 2019 2019
dbSNP: rs55819519
rs55819519
TP53
40 0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04 0.010 1.000 1 2015 2015
dbSNP: rs3761549
rs3761549
FOXP3
18 0.724 0.480 X 49260888 intron variant G/A snv 9.6E-02 0.010 1.000 1 2013 2013
dbSNP: rs553717
rs553717
GPC5
1 13 91693325 missense variant C/T snv 0.14 0.14 0.010 1.000 1 2010 2010
dbSNP: rs28599926
rs28599926
MIR1268A ; LOC101928039
2 1.000 0.080 15 22225320 mature miRNA variant C/T snv 4.8E-02 0.14 0.010 1.000 1 2016 2016
dbSNP: rs670
rs670
APOA1 ; APOA1-AS
13 0.763 0.360 11 116837697 5 prime UTR variant C/T snv 0.17 0.010 1.000 1 2013 2013
dbSNP: rs2302254
rs2302254
NME1 ; NME1-NME2
15 0.752 0.240 17 51153539 5 prime UTR variant C/T snv 0.22 0.010 1.000 1 2020 2020