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: rs8057643
rs8057643
RBFOX1
4 0.851 0.040 16 6910689 intron variant C/A;T snv 0.010 1.000 1 2007 2007
dbSNP: rs865880036
rs865880036
MEIS2
5 0.827 0.040 15 37098156 missense variant A/C snv 1.3E-04 0.010 1.000 1 2017 2017
dbSNP: rs1057519903
rs1057519903
H3-3A
28 0.683 0.080 1 226064434 missense variant A/T snv 0.030 1.000 3 2016 2017
dbSNP: rs1453633223
rs1453633223
CDKN2A
6 0.807 0.080 9 21974503 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs149840192
rs149840192
EGFR
7 0.807 0.080 7 55154129 missense variant C/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs2297440
rs2297440
RTEL1 ; RTEL1-TNFRSF6B
10 0.763 0.080 20 63680946 intron variant T/C snv 0.81 0.010 1.000 1 2011 2011
dbSNP: rs2440472
rs2440472
AMFR
5 0.827 0.080 16 56402912 intron variant A/G snv 0.61 0.010 1.000 1 2018 2018
dbSNP: rs373191257
rs373191257
AMFR
5 0.827 0.080 16 56363027 missense variant T/A snv 1.6E-05 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs63750949
rs63750949
MSH6 ; FBXO11
6 0.827 0.080 2 47806213 missense variant C/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs660118
rs660118
SART1
6 0.807 0.080 11 65967703 missense variant G/C snv 0.46 0.36 0.010 1.000 1 2011 2011
dbSNP: rs745542298
rs745542298
TP73
6 0.807 0.080 1 3732781 missense variant G/A;T snv 8.6E-06; 4.3E-06 2.1E-05 0.010 1.000 1 2011 2011
dbSNP: rs769809364
rs769809364
TP73
7 0.807 0.080 1 3732940 missense variant G/A snv 8.5E-06 1.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs1205454520
rs1205454520
PTEN ; KLLN
10 0.763 0.120 10 87864059 5 prime UTR variant -/G delins 7.2E-06 0.010 < 0.001 1 2007 2007
dbSNP: rs2293157
rs2293157
STAT5A
9 0.763 0.120 17 42300657 intron variant C/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs3024994
rs3024994
VEGFA
8 0.776 0.120 6 43775770 non coding transcript exon variant C/T snv 3.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs371409680
rs371409680
TP53
10 0.790 0.120 17 7673772 missense variant C/G;T snv 4.0E-05 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs373584770
rs373584770
CASP1
5 0.827 0.120 11 105030337 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs1273593548
rs1273593548
PIK3CG
19 0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06 0.020 0.500 2 2007 2017
dbSNP: rs1801320
rs1801320
RAD51 ; RAD51-AS1
15 0.742 0.160 15 40695330 5 prime UTR variant G/C snv 0.12 0.010 1.000 1 2016 2016
dbSNP: rs2904551
rs2904551
PRODH
8 0.776 0.160 22 18918421 missense variant A/G snv 5.2E-03 2.8E-03 0.010 1.000 1 2018 2018
dbSNP: rs3788266
rs3788266
S100B
12 0.732 0.160 21 46606442 upstream gene variant G/A snv 0.50 0.010 1.000 1 2011 2011
dbSNP: rs74315452
rs74315452
SOD1
12 0.732 0.160 21 31667356 missense variant T/C snv 0.010 1.000 1 2004 2004
dbSNP: rs16906252
rs16906252
MGMT
19 0.732 0.200 10 129467281 synonymous variant C/T snv 5.5E-02 5.1E-02 0.020 1.000 2 2013 2015
dbSNP: rs121913503
rs121913503
IDH2
23 0.689 0.200 15 90088606 missense variant C/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs12885300
rs12885300
DIO2 ; DIO2-AS1
7 0.790 0.200 14 80211923 5 prime UTR variant C/A;G;T snv 0.010 1.000 1 2019 2019