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: rs2287886
rs2287886
CD209
9 0.776 0.280 19 7747650 upstream gene variant A/G;T snv 0.66 0.010 1.000 1 2013 2013
dbSNP: rs2290280
rs2290280
CCNH ; LOC105379066
1 5 87412904 5 prime UTR variant C/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs2297630
rs2297630
CXCL12
6 0.827 0.160 10 44376100 intron variant G/A;T snv 0.21 0.010 1.000 1 2019 2019
dbSNP: rs3786136
rs3786136
RPA1
1 17 1869979 intron variant G/A snv 0.24 0.010 1.000 1 2017 2017
dbSNP: rs3814055
rs3814055
NR1I2
4 0.925 0.040 3 119781188 5 prime UTR variant C/T snv 0.35 0.010 1.000 1 2015 2015
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2009 2009
dbSNP: rs4694362
rs4694362
DCK
1 4 71028147 intron variant C/T snv 0.49 0.010 1.000 1 2017 2017
dbSNP: rs4737420
rs4737420
LYN
3 0.925 0.080 8 55895622 non coding transcript exon variant T/C snv 0.38 0.010 1.000 1 2019 2019
dbSNP: rs483352867
rs483352867
STIM1
8 0.827 0.400 11 4074620 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs4969170
rs4969170
LOC101928674
11 0.752 0.440 17 78364457 intron variant A/C;G snv 0.54 0.010 1.000 1 2012 2012
dbSNP: rs5030437
rs5030437
TRAF6
1 11 36503205 intron variant A/G snv 0.78 0.010 1.000 1 2012 2012
dbSNP: rs5030470
rs5030470
TRAF6
1 11 36493896 intron variant A/G snv 0.12 0.010 1.000 1 2012 2012
dbSNP: rs61749384
rs61749384
VWF
5 0.882 0.080 12 6019502 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs6667202
rs6667202
IL19
4 0.882 0.120 1 206783747 intron variant C/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs724159945
rs724159945
ETV6
3 1.000 12 11885968 missense variant C/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs724159946
rs724159946
ETV6
3 1.000 12 11884541 missense variant G/A snv 7.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs735239
rs735239
CD209
5 0.851 0.240 19 7748382 upstream gene variant A/G snv 0.26 0.010 1.000 1 2013 2013
dbSNP: rs74315450
rs74315450
RUNX1
5 0.851 0.120 21 34859485 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs74315451
rs74315451
RUNX1 ; LOC112267915
2 1.000 0.120 21 34880665 missense variant C/G snv 0.010 1.000 1 2002 2002
dbSNP: rs759838407
rs759838407
LIG4
3 0.925 0.160 13 108209756 frameshift variant AG/-;AGAG delins 0.700 1.000 1 2014 2014
dbSNP: rs760370
rs760370
SLC29A1
3 0.925 0.120 6 44233216 intron variant A/G snv 0.36 0.010 1.000 1 2016 2016
dbSNP: rs7694379
rs7694379 		3 1.000 4 87265357 intron variant G/A snv 0.40 0.010 1.000 1 2019 2019
dbSNP: rs7729269
rs7729269
MCC
3 0.925 0.040 5 113384697 intron variant T/C snv 0.17 0.010 1.000 1 2017 2017
dbSNP: rs786205155
rs786205155
ETV6
4 0.882 0.120 12 11884481 missense variant T/C snv 0.710 1.000 1 2015 2015
dbSNP: rs863223318
rs863223318
ANKRD26
2 1.000 0.120 10 27100460 5 prime UTR variant C/T snv 0.700 1.000 1 2019 2019