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 2018 2018
dbSNP: rs17391694
rs17391694 		6 0.882 0.120 1 78157942 regulatory region variant C/T snv 7.8E-02 0.800 1.000 2 2009 2017
dbSNP: rs1057941
rs1057941
GBAP1
18 0.701 0.280 1 155216951 non coding transcript exon variant G/A;T snv 0.46 0.700 1.000 1 2016 2016
dbSNP: rs11119608
rs11119608
KCNH1
17 0.708 0.280 1 210816167 intron variant T/G snv 0.21 0.700 1.000 1 2016 2016
dbSNP: rs1136410
rs1136410
PARP1
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.010 1.000 1 2013 2013
dbSNP: rs11554290
rs11554290
NRAS
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs121913255
rs121913255
NRAS
26 0.667 0.400 1 114713907 missense variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1356083197
rs1356083197
WDR26 ; CNIH3
2 1.000 0.040 1 224434068 missense variant C/T snv 1.5E-05 1.4E-05 0.010 1.000 1 2006 2006
dbSNP: rs144594252
rs144594252
DDR2
3 0.882 0.080 1 162754625 missense variant C/G snv 6.8E-05 5.6E-05 0.010 1.000 1 2015 2015
dbSNP: rs186507655
rs186507655 		17 0.708 0.280 1 1351675 upstream gene variant G/A snv 6.8E-03 0.700 1.000 1 2016 2016
dbSNP: rs2974935
rs2974935
MTX1
17 0.708 0.280 1 155212052 non coding transcript exon variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs3134614
rs3134614
MYCL ; MYCL-AS1
1 1.000 0.040 1 39897382 missense variant G/C snv 0.89 0.91 0.010 < 0.001 1 2004 2004
dbSNP: rs34517439
rs34517439
DNAJB4 ; GIPC2
7 0.882 0.120 1 77984833 intron variant C/A snv 7.3E-02 0.700 1.000 1 2017 2017
dbSNP: rs35535570
rs35535570
MIGA1
1 1.000 0.040 1 77794071 intron variant G/A snv 5.2E-02 0.700 1.000 1 2017 2017
dbSNP: rs3738671
rs3738671
TRIT1
1 1.000 0.040 1 39850216 missense variant A/T snv 0.11 0.10 0.010 1.000 1 2007 2007
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 < 0.001 1 2018 2018
dbSNP: rs4072037
rs4072037
MUC1
22 0.732 0.240 1 155192276 splice acceptor variant C/A;T snv 0.59 0.010 1.000 1 2017 2017
dbSNP: rs5275
rs5275
PTGS2
55 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs533748068
rs533748068
ARHGEF2 ; MIR6738
5 0.851 0.080 1 155950962 missense variant C/A;T snv 4.3E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs595961
rs595961
AGO1
6 0.807 0.160 1 35902179 intron variant A/G snv 0.30 0.37 0.010 1.000 1 2016 2016
dbSNP: rs71658797
rs71658797
AK5
3 0.925 0.080 1 77501822 intron variant T/A snv 7.3E-02 0.700 1.000 1 2017 2017
dbSNP: rs746540053
rs746540053
CD34 ; LOC107985253
2 1.000 0.040 1 207911034 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs759404153
rs759404153
EPHB2
2 1.000 0.040 1 22910452 missense variant T/A;G snv 2.8E-05; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1057519784
rs1057519784
ALK
7 0.827 0.080 2 29220765 missense variant G/T snv 0.700 1.000 3 2012 2014
dbSNP: rs1057519781
rs1057519781
ALK
9 0.807 0.160 2 29209816 missense variant C/G snv 0.700 1.000 2 2012 2014