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: rs2253319
rs2253319
RUNX1
3 0.882 0.120 21 34815749 intron variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs225359
rs225359
TFF1
3 0.882 0.120 21 42367327 upstream gene variant G/A snv 0.62 0.010 1.000 1 2015 2015
dbSNP: rs3760468
rs3760468
NME1 ; NME1-NME2
3 0.882 0.120 17 51153130 upstream gene variant A/T snv 0.39 0.010 1.000 1 2012 2012
dbSNP: rs3801004
rs3801004
FSCN1
3 0.882 0.120 7 5598591 intron variant C/A;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs4705341
rs4705341
CARMN
3 0.882 0.120 5 149426373 non coding transcript exon variant A/G snv 0.13 0.010 1.000 1 2016 2016
dbSNP: rs560890523
rs560890523
KRAS
3 1.000 0.080 12 25205729 3 prime UTR variant TT/-;T delins 0.010 1.000 1 2017 2017
dbSNP: rs6990097
rs6990097
TNKS
3 0.882 0.120 8 9555347 non coding transcript exon variant T/C snv 0.28 0.010 1.000 1 2009 2009
dbSNP: rs12774070
rs12774070
ADAMTS14
4 0.925 0.120 10 70753879 missense variant C/A;G snv 0.23 0.19 0.010 1.000 1 2017 2017
dbSNP: rs1799817
rs1799817
INSR
4 0.851 0.200 19 7125286 synonymous variant G/A snv 0.23 0.21 0.010 1.000 1 2019 2019
dbSNP: rs2064863
rs2064863
AURKA
4 0.925 0.120 20 56387716 intron variant T/A;C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs2071504
rs2071504
POLR2A
4 0.882 0.120 17 7502618 non coding transcript exon variant C/T snv 0.18 0.17 0.010 1.000 1 2012 2012
dbSNP: rs2071676
rs2071676
CA9 ; ARHGEF39
4 0.925 0.120 9 35674056 missense variant G/A snv 0.37 0.30 0.010 1.000 1 2012 2012
dbSNP: rs2105269
rs2105269
GALNT16
4 0.882 0.120 14 69280517 intron variant A/G snv 0.35 0.010 1.000 1 2019 2019
dbSNP: rs3218038
rs3218038
CCNE1
4 0.882 0.120 19 29814988 intron variant G/T snv 9.1E-02 0.010 1.000 1 2012 2012
dbSNP: rs3748093
rs3748093
BRAF
4 0.925 0.120 7 140800651 intron variant T/A snv 1.5E-02 0.010 1.000 1 2013 2013
dbSNP: rs3917356
rs3917356
IL1B
4 0.882 0.160 2 112834786 intron variant C/T snv 0.39 0.010 1.000 1 2012 2012
dbSNP: rs438034
rs438034
CENPF
4 0.882 0.120 1 214657274 stop gained A/G;T snv 0.61 0.010 1.000 1 2009 2009
dbSNP: rs4719839
rs4719839
LOC105375199 ; LOC105375200
4 0.882 0.120 7 25946953 downstream gene variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs6720283
rs6720283
COL6A3
4 0.882 0.120 2 237401239 intron variant G/A snv 0.31 0.010 1.000 1 2019 2019
dbSNP: rs6762208
rs6762208
SENP2
4 0.851 0.200 3 185613377 missense variant C/A;T snv 0.36; 1.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs738722
rs738722
CHEK2
4 0.882 0.120 22 28734024 intron variant T/C snv 0.67 0.010 1.000 1 2012 2012
dbSNP: rs77382849
rs77382849
EIF3A
4 0.851 0.160 10 119050586 missense variant C/T snv 8.8E-03 4.4E-03 0.010 1.000 1 2017 2017
dbSNP: rs8371
rs8371
XIAP
4 0.925 0.120 X 123912065 3 prime UTR variant C/T snv 0.25 0.19 0.010 1.000 1 2017 2017
dbSNP: rs9679162
rs9679162
GALNT14
4 0.882 0.120 2 31024648 intron variant G/T snv 0.48 0.010 1.000 1 2017 2017
dbSNP: rs9856
rs9856
XIAP
4 0.925 0.120 X 123911791 3 prime UTR variant C/T snv 0.57 0.010 1.000 1 2017 2017