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: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2007 2012
dbSNP: rs1057519766
rs1057519766
FLT3
5 0.851 0.080 13 28028203 missense variant G/C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs11978267
rs11978267
IKZF1
9 0.763 0.240 7 50398606 intron variant A/G snv 0.25 0.010 1.000 1 2014 2014
dbSNP: rs121918464
rs121918464
PTPN11
25 0.708 0.440 12 112450406 missense variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs1239681664
rs1239681664
ABCA1
15 0.716 0.320 9 104818690 synonymous variant A/G snv 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1470755915
rs1470755915
RUNX1T1
10 0.776 0.240 8 92005229 missense variant C/A snv 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs2239633
rs2239633
CEBPE
12 0.742 0.240 14 23119848 upstream gene variant G/A snv 0.38 0.010 1.000 1 2015 2015
dbSNP: rs2295080
rs2295080
MTOR
20 0.695 0.320 1 11262571 upstream gene variant G/C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs387906659
rs387906659
AKT2
14 0.742 0.280 19 40257052 stop gained C/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs397514606
rs397514606
AKT3
14 0.763 0.320 1 243695714 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs4132601
rs4132601
IKZF1
9 0.763 0.240 7 50402906 3 prime UTR variant T/G snv 0.25 0.010 1.000 1 2014 2014
dbSNP: rs62527607
rs62527607
BAALC ; BAALC-AS2
5 0.827 0.160 8 103141321 non coding transcript exon variant G/T snv 0.14 0.010 1.000 1 2017 2017
dbSNP: rs797045145
rs797045145
HFE ; LOC108783645
6 0.807 0.240 6 26091479 stop gained G/A snv 0.010 1.000 1 2005 2005
dbSNP: rs80338880
rs80338880
TFR2
12 0.732 0.360 7 100633100 stop gained G/C snv 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs8073069
rs8073069
BIRC5
7 0.807 0.200 17 78213692 upstream gene variant G/C snv 0.33 0.010 < 0.001 1 2018 2018
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.030 1.000 3 2005 2013
dbSNP: rs35201683
rs35201683
HFE
12 0.732 0.360 6 26094205 stop gained C/A;T snv 1.4E-03 0.010 1.000 1 2005 2005
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2005 2005
dbSNP: rs4986791
rs4986791
TLR4
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 1.000 1 2013 2013
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1048943
rs1048943
CYP1A1
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.010 1.000 1 2012 2012
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2005 2005
dbSNP: rs6265
rs6265
BDNF ; BDNF-AS
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2013 2013
dbSNP: rs1801131
rs1801131
MTHFR
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2012 2012
dbSNP: rs1532268
rs1532268
MTRR
12 0.776 0.280 5 7878066 missense variant C/T snv 0.31 0.32 0.010 1.000 1 2012 2012