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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2006 2014
dbSNP: rs28936670
rs28936670
NKX2-5
17 0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02 0.020 1.000 2 2013 2019
dbSNP: rs1056836
rs1056836
CYP1B1
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.010 1.000 1 2008 2008
dbSNP: rs1057516044
rs1057516044
ABCC9
9 0.851 0.240 12 21913005 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1135401744
rs1135401744
KYNU
14 0.776 0.120 2 142918608 splice acceptor variant G/T snv 1.4E-04 0.700 1.000 1 2017 2017
dbSNP: rs121909222
rs121909222
PTEN
13 0.742 0.240 10 87933127 missense variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs121913529
rs121913529
KRAS
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs121918460
rs121918460
PTPN11
27 0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs1232197674
rs1232197674
TFAP2B
5 0.827 0.240 6 50838070 missense variant C/T snv 4.0E-06 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs12435998
rs12435998
SEL1L
4 0.851 0.200 14 81506329 intron variant T/C snv 0.14 0.010 1.000 1 2012 2012
dbSNP: rs1383983021
rs1383983021
EIF2AK3
3 0.882 0.160 2 88588014 missense variant T/C snv 0.010 < 0.001 1 2013 2013
dbSNP: rs1799853
rs1799853
CYP2C9
11 0.763 0.320 10 94942290 missense variant C/T snv 9.2E-02 8.9E-02 0.010 1.000 1 2017 2017
dbSNP: rs1800440
rs1800440
CYP1B1
29 0.653 0.440 2 38070996 missense variant T/C;G snv 0.15; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs2153628
rs2153628
CYP2C9
1 1.000 0.080 10 94963667 intron variant A/G snv 0.19 0.010 1.000 1 2017 2017
dbSNP: rs2234584
rs2234584
WT1
5 0.882 0.240 11 32428521 missense variant G/A;T snv 3.9E-04; 2.8E-05 0.010 1.000 1 2004 2004
dbSNP: rs2277923
rs2277923
NKX2-5
13 0.752 0.160 5 173235021 synonymous variant T/C snv 0.41 0.44 0.010 1.000 1 2019 2019
dbSNP: rs2635727
rs2635727 		2 1.000 0.080 6 50853227 downstream gene variant T/C;G snv 0.010 < 0.001 1 2010 2010
dbSNP: rs2817399
rs2817399
TFAP2B
1 1.000 0.080 6 50836808 intron variant A/G snv 0.42 0.010 1.000 1 2010 2010
dbSNP: rs2817419
rs2817419
TFAP2B
2 0.925 0.160 6 50845193 3 prime UTR variant G/A snv 0.73 0.010 < 0.001 1 2010 2010
dbSNP: rs368418329
rs368418329
GATA4
3 0.925 0.120 8 11708019 5 prime UTR variant G/T snv 5.9E-03 0.010 1.000 1 2019 2019
dbSNP: rs3746444
rs3746444
MYH7B ; MIR499A ; MIR499B ; LOC107985393
105 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 0.010 1.000 1 2016 2016
dbSNP: rs387906592
rs387906592
ACTA2 ; STAMBPL1
14 0.752 0.280 10 88941309 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2014 2014
dbSNP: rs56166237
rs56166237
GATA4
4 0.882 0.120 8 11708411 missense variant G/T snv 3.6E-03 2.0E-03 0.010 1.000 1 2019 2019