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: rs1558518449
rs1558518449
MSH2
1 1.000 0.040 2 47475221 frameshift variant ATGACGTA/- delins 0.700 0
dbSNP: rs11548193
rs11548193
BCAT2
2 0.925 0.040 19 48799813 missense variant G/A;C snv 0.14 0.010 1.000 1 2017 2017
dbSNP: rs11558961
rs11558961
GFAP
2 0.925 0.040 17 44907319 3 prime UTR variant G/C;T snv 0.27; 1.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs11670188
rs11670188
BTBD2
2 0.925 0.040 19 2014038 non coding transcript exon variant A/G snv 0.16 0.010 1.000 1 2010 2010
dbSNP: rs1435266782
rs1435266782
IDH2
2 0.925 0.040 15 90088633 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs2291427
rs2291427
ALOX5
2 0.925 0.040 10 45440776 intron variant A/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs3829382
rs3829382
FLT3
2 0.925 0.040 13 28003551 3 prime UTR variant G/T snv 0.46 0.010 1.000 1 2013 2013
dbSNP: rs7325927
rs7325927
FAM155A ; FAM155A-IT1
2 0.925 0.040 13 107823165 intron variant C/T snv 0.38 0.010 1.000 1 2010 2010
dbSNP: rs751859698
rs751859698
MSH4
2 0.925 0.040 1 75898031 missense variant T/A;C snv 1.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs759927375
rs759927375
H3C1 ; H4C1
2 0.925 0.040 6 26020589 missense variant G/A;C snv 1.2E-05; 8.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs7732320
rs7732320
SSBP2
2 0.925 0.040 5 81423306 intron variant C/T snv 0.22 0.800 1.000 1 2012 2012
dbSNP: rs8957
rs8957
SLC2A4RG
2 0.925 0.040 20 63742354 missense variant G/T snv 0.71 0.78 0.010 1.000 1 2017 2017
dbSNP: rs9642393
rs9642393
EGFR
2 0.925 0.040 7 55177954 intron variant T/C snv 0.24 0.010 1.000 1 2013 2013
dbSNP: rs1555138291
rs1555138291
ATM ; C11orf65
2 0.925 0.240 11 108345859 stop gained G/A snv 0.700 0
dbSNP: rs1558650888
rs1558650888
DNMT3A
2 0.925 0.040 2 25234308 missense variant G/A snv 0.700 0
dbSNP: rs587782603
rs587782603
PTEN
2 1.000 0.040 10 87952118 stop gained G/A;T snv 0.700 0
dbSNP: rs10464870
rs10464870
CCDC26
3 0.882 0.040 8 129465577 intron variant C/T snv 0.80 0.010 1.000 1 2010 2010
dbSNP: rs1057519887
rs1057519887
EGFR
3 0.925 0.040 7 55154128 missense variant GC/AA;AT mnv 0.700 1.000 1 2016 2016
dbSNP: rs1057519888
rs1057519888
EGFR
3 0.925 0.080 7 55143386 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519913
rs1057519913
MTOR
3 0.925 0.120 1 11157172 missense variant G/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1249080185
rs1249080185
EPHB2
3 0.882 0.080 1 22784698 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs12645561
rs12645561
NEIL3
3 0.882 0.120 4 177339718 intron variant C/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs13332653
rs13332653 		3 0.882 0.040 16 24578078 intergenic variant T/G snv 0.11 0.010 1.000 1 2014 2014
dbSNP: rs1346787
rs1346787
EFEMP1 ; LOC112268416
3 0.882 0.040 2 55865477 downstream gene variant C/A;G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs139236063
rs139236063
EGFR
3 0.925 0.080 7 55165350 missense variant G/C;T snv 0.700 1.000 1 2016 2016