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: rs10994982
rs10994982
ARID5B
7 0.790 0.120 10 61950345 intron variant A/G snv 0.49 0.070 0.857 7 2009 2019
dbSNP: rs7088318
rs7088318
PIP4K2A
4 0.851 0.120 10 22564019 intron variant C/A snv 0.55 0.030 0.667 3 2013 2016
dbSNP: rs924607
rs924607
LOC100996325 ; LOC105374608
7 0.851 0.120 5 609978 intron variant C/T snv 0.32 0.030 1.000 3 2016 2019
dbSNP: rs10519612
rs10519612
IL15
3 0.882 0.120 4 141732548 intron variant A/C snv 0.10 0.020 1.000 2 2010 2015
dbSNP: rs17007695
rs17007695 		4 0.851 0.120 4 141788570 intergenic variant T/C snv 7.7E-02 0.020 1.000 2 2010 2015
dbSNP: rs7073837
rs7073837
ARID5B
4 0.851 0.120 10 61940136 intron variant A/C snv 0.58 0.64 0.020 1.000 2 2010 2014
dbSNP: rs772470710
rs772470710
NSD2
3 0.882 0.120 4 1961074 missense variant G/A snv 4.0E-06 0.020 1.000 2 2013 2019
dbSNP: rs7853758
rs7853758
SLC28A3 ; LOC105376116
5 0.851 0.120 9 84286011 synonymous variant G/A snv 0.15 0.19 0.020 1.000 2 2018 2018
dbSNP: rs1020608187
rs1020608187
SDS
1 1.000 0.120 12 113398843 missense variant C/G snv 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs10235796
rs10235796
IKZF1
3 0.882 0.120 7 50394939 intron variant T/C snv 0.82 0.010 1.000 1 2017 2017
dbSNP: rs10417924
rs10417924
TGFB1
1 1.000 0.120 19 41327262 intron variant T/C snv 0.86 0.010 1.000 1 2009 2009
dbSNP: rs104893636
rs104893636
HOXD3 ; HOXD4
3 0.882 0.120 2 176151875 missense variant A/C;T snv 5.2E-06; 7.9E-04 0.010 1.000 1 2005 2005
dbSNP: rs1051296
rs1051296
SLC19A1
3 0.882 0.120 21 45514947 3 prime UTR variant A/C snv 0.43 0.44 0.010 1.000 1 2014 2014
dbSNP: rs1057519743
rs1057519743
CRLF2
6 0.827 0.120 Y 1196852 missense variant A/C snv 0.010 1.000 1 2012 2012
dbSNP: rs1057519866
rs1057519866
NT5C2
5 0.851 0.120 10 103093198 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs10821938
rs10821938
ARID5B
2 0.925 0.120 10 61965014 intron variant A/C snv 0.56 0.010 1.000 1 2010 2010
dbSNP: rs11085721
rs11085721
DNMT1
2 1.000 0.120 19 10207300 intron variant G/C snv 0.13 0.010 1.000 1 2015 2015
dbSNP: rs111978267
rs111978267
KCNQ1
3 0.882 0.120 11 2751648 intron variant C/G;T snv 2.8E-05 0.010 1.000 1 2019 2019
dbSNP: rs1121404
rs1121404
WWOX
1 1.000 0.120 16 79055972 intron variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs1169704167
rs1169704167
ATM
3 0.882 0.120 11 108284370 frameshift variant -/T delins 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs11868708
rs11868708
SHMT1 ; MIR6778
1 1.000 0.120 17 18341299 non coding transcript exon variant T/A;C;G snv 0.010 < 0.001 1 2016 2016
dbSNP: rs1194008138
rs1194008138
NR3C1
3 0.882 0.120 5 143400121 missense variant T/C snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs11980379
rs11980379
IKZF1
3 0.882 0.120 7 50402283 3 prime UTR variant T/C snv 0.25 0.010 < 0.001 1 2016 2016
dbSNP: rs12402181
rs12402181
SGIP1 ; MIR3117
3 0.882 0.120 1 66628488 mature miRNA variant G/A snv 0.17 0.24 0.010 1.000 1 2018 2018
dbSNP: rs12434881
rs12434881
CEBPE
3 0.882 0.120 14 23119433 5 prime UTR variant G/A snv 0.36 0.010 1.000 1 2017 2017