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: rs1178981336
rs1178981336
C9orf43
2 1.000 0.040 9 113424228 frameshift variant -/G delins 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs142883642
rs142883642
IDH1
2 1.000 0.040 2 208248486 missense variant T/C snv 3.6E-05 2.1E-05 0.010 1.000 1 2010 2010
dbSNP: rs587779821
rs587779821
ATM
2 1.000 0.080 11 108259059 missense variant A/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs767232094
rs767232094
MMP2
2 1.000 0.040 16 55484157 synonymous variant C/T snv 8.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs193303018
rs193303018
ND1 ; ND2 ; TRNL1
2 1.000 0.200 MT 3242 non coding transcript exon variant G/A snv 0.700 0
dbSNP: rs751689316
rs751689316
MECOM
4 0.925 0.080 3 169131510 missense variant C/T snv 1.2E-05 0.020 1.000 2 2008 2013
dbSNP: rs2228529
rs2228529
ERCC6
4 0.925 0.080 10 49459059 missense variant T/C snv 0.22 0.19 0.010 1.000 1 2019 2019
dbSNP: rs4135113
rs4135113
TDG
5 0.925 0.080 12 103982915 missense variant G/A;C;T snv 4.7E-02 0.010 1.000 1 2019 2019
dbSNP: rs762622506
rs762622506
BCOR
3 0.925 0.080 X 40074459 missense variant C/A;T snv 6.1E-06 0.010 1.000 1 2018 2018
dbSNP: rs866082104
rs866082104
ABCB7
3 0.925 0.120 X 75053456 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs867679539
rs867679539
BCORL1
3 0.925 0.080 X 130013883 missense variant A/C snv 0.010 1.000 1 2018 2018
dbSNP: rs387906631
rs387906631
GATA2
6 0.882 0.080 3 128481901 missense variant G/A snv 0.820 1.000 2 2011 2012
dbSNP: rs138817062
rs138817062
PML
4 0.882 0.040 15 74044940 missense variant C/T snv 4.0E-05 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1464681682
rs1464681682
U2AF1L5 ; LOC102724701 ; LOC102724843
6 0.882 0.160 21 6486334 missense variant T/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs3835
rs3835
XRCC5
4 0.882 0.120 2 216201914 intron variant G/A snv 0.21 0.010 1.000 1 2015 2015
dbSNP: rs267607040
rs267607040
SETBP1
5 0.851 0.320 18 44951948 missense variant G/A snv 0.700 1.000 2 2013 2013
dbSNP: rs267607042
rs267607042
SETBP1
5 0.851 0.320 18 44951942 missense variant G/A;C snv 0.700 1.000 2 2013 2013
dbSNP: rs751713049
rs751713049
SRSF2 ; MFSD11 ; MIR636
5 0.851 0.200 17 76736877 missense variant G/A;C;T snv 6.3E-05; 2.9E-05; 1.2E-04 0.020 1.000 2 2016 2019
dbSNP: rs1265794840
rs1265794840
ERCC2
6 0.851 0.160 19 45365131 missense variant C/T snv 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs2454206
rs2454206
TET2 ; TET2-AS1
6 0.851 0.160 4 105275794 missense variant A/G;T snv 0.30; 6.4E-06 0.010 1.000 1 2019 2019
dbSNP: rs397507548
rs397507548
PTPN11
6 0.851 0.160 12 112489093 missense variant A/C snv 0.010 1.000 1 2010 2010
dbSNP: rs371246226
rs371246226
U2AF1
8 0.827 0.160 21 43094667 missense variant T/C;G snv 2.4E-05; 2.4E-05 0.710 1.000 2 2011 2015
dbSNP: rs1057519960
rs1057519960
SF3B2
7 0.827 0.280 11 66063413 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1408538785
rs1408538785
DNAH8
6 0.827 0.080 6 38761760 missense variant A/G snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs377577594
rs377577594
DNMT3A
7 0.827 0.240 2 25234374 missense variant G/A;C;T snv 1.2E-04; 8.0E-06 0.700 1.000 1 2016 2016