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: rs786205155
rs786205155
ETV6
2 1.000 0.107 12 11884481 missense variant T/C snp 0.710 1.000 1 2016 2016
dbSNP: rs867593888
rs867593888
MYH9
10 22 36292059 missense variant T/C snp 0.700 1 2015 2015
dbSNP: rs786205154
rs786205154
ETV6
3 1.000 0.107 12 11885921 splice acceptor variant AAACAG/A in-del 0.700 0
dbSNP: rs61749397
rs61749397
VWF
12 0.769 0.071 12 6019472 missense variant C/G,T snp 4.0E-06 0.030 1.000 3 2010 2018
dbSNP: rs104894815
rs104894815
GATA1
9 0.784 0.071 X 48792337 missense variant G/A snp 0.020 1.000 2 2000 2012
dbSNP: rs10510050
rs10510050 		1 10 118867050 intergenic variant A/G snp 0.53 0.010 1.000 1 2016 2016
dbSNP: rs121918552
rs121918552
CYCS
2 1.000 0.036 7 25123996 missense variant C/T snp 0.010 1.000 1 2014 2014
dbSNP: rs1453542
rs1453542
OR4D6
3 0.923 0.036 11 59457412 missense variant G/A,C snp 7.2E-05; 0.26 6.4E-05; 0.23 0.010 1.000 1 2016 2016
dbSNP: rs149354083
rs149354083
ADAMTS13 ; CACFD1
2 1.000 0.071 9 133458053 missense variant A/G snp 0.010 1.000 1 2010 2010
dbSNP: rs1523127
rs1523127
NR1I2
3 0.923 0.036 3 119782192 5 prime UTR variant C/A snp 0.50 0.010 1.000 1 2016 2016
dbSNP: rs1523130
rs1523130
NR1I2
1 3 119780660 5 prime UTR variant T/C snp 0.48 0.010 1.000 1 2016 2016
dbSNP: rs1537514
rs1537514
MTHFR ; C1orf167
4 0.878 0.107 1 11788011 missense variant G/C snp 0.10 0.10 0.010 1.000 1 2015 2015
dbSNP: rs1801131
rs1801131
MTHFR
49 0.599 0.607 1 11794419 missense variant T/G snp 0.29 0.26 0.010 1.000 1 2015 2015
dbSNP: rs1801133
rs1801133
MTHFR
86 0.533 0.714 1 11796321 missense variant G/A snp 0.31 0.26 0.010 1.000 1 2015 2015
dbSNP: rs2231142
rs2231142
ABCG2
29 0.642 0.464 4 88131171 missense variant G/C,T snp 4.0E-06; 0.12 9.4E-02 0.010 1.000 1 2016 2016
dbSNP: rs2274407
rs2274407
ABCC4
3 0.923 0.107 13 95206781 missense variant C/A snp 9.7E-02 0.10 0.010 1.000 1 2009 2009
dbSNP: rs2287886
rs2287886
CD209
8 0.784 0.250 19 7747650 regulatory region variant A/G snp 0.65 0.010 1.000 1 2014 2014
dbSNP: rs368750879
rs368750879
FLNA
1 X 154354390 missense variant C/T snp 3.3E-05 0.010 1.000 1 2013 2013
dbSNP: rs3814055
rs3814055
NR1I2
4 0.923 0.036 3 119781188 5 prime UTR variant C/T snp 0.35 0.010 1.000 1 2016 2016
dbSNP: rs397507444
rs397507444
MTHFR
169 0.457 0.714 1 11794407 missense variant T/G snp 0.010 1.000 1 2009 2009
dbSNP: rs4149117
rs4149117
SLCO1B3
2 12 20858546 missense variant T/C,G snp 0.81 0.70 0.010 1.000 1 2016 2016
dbSNP: rs483352867
rs483352867
STIM1
6 0.878 0.286 11 4074620 stop gained C/T snp 0.010 1.000 1 2014 2014
dbSNP: rs4969170
rs4969170
LOC101928674
4 0.878 0.143 17 78364457 intron variant A/G snp 0.53 0.010 1.000 1 2013 2013
dbSNP: rs5030437
rs5030437
TRAF6
1 11 36503205 intron variant A/G snp 0.78 0.010 1.000 1 2012 2012
dbSNP: rs5030470
rs5030470
TRAF6
1 11 36493896 intron variant A/G snp 0.12 0.010 1.000 1 2012 2012