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: rs3135388
rs3135388
HLA-DRA
7 0.807 0.240 6 32445274 downstream gene variant A/G snv 0.90 0.010 1.000 1 2010 2010
dbSNP: rs6964969
rs6964969
IKZF1
4 0.851 0.120 7 50405553 downstream gene variant A/G snv 0.23 0.010 1.000 1 2017 2017
dbSNP: rs7789635
rs7789635 		4 0.882 0.120 7 50405912 downstream gene variant T/C snv 0.40 0.010 1.000 1 2017 2017
dbSNP: rs2239633
rs2239633
CEBPE
12 0.742 0.240 14 23119848 upstream gene variant G/A snv 0.38 0.030 1.000 3 2014 2017
dbSNP: rs2069762
rs2069762
IL2
23 0.672 0.560 4 122456825 upstream gene variant A/C snv 0.24 0.010 1.000 1 2018 2018
dbSNP: rs2295080
rs2295080
MTOR
20 0.695 0.320 1 11262571 upstream gene variant G/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs3758149
rs3758149
GGH
3 0.882 0.120 8 63039169 upstream gene variant G/A snv 0.24 0.010 1.000 1 2019 2019
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: rs587781823
rs587781823
ATM
5 0.851 0.280 11 108284370 frameshift variant -/T delins 0.010 1.000 1 2006 2006
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: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 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 2014 2014
dbSNP: rs4132601
rs4132601
IKZF1
9 0.763 0.240 7 50402906 3 prime UTR variant T/G snv 0.25 0.040 1.000 4 2014 2019
dbSNP: rs10106
rs10106
FPGS
4 0.851 0.200 9 127813796 3 prime UTR variant T/C snv 0.45 0.010 1.000 1 2015 2015
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: rs1573613
rs1573613
ETV6
3 0.882 0.120 12 11894684 3 prime UTR variant T/C snv 0.48 0.010 1.000 1 2014 2014
dbSNP: rs1801157
rs1801157
CXCL12
46 0.611 0.600 10 44372809 3 prime UTR variant C/T snv 0.16 0.010 1.000 1 2013 2013
dbSNP: rs2536
rs2536
MTOR
11 0.776 0.240 1 11106656 3 prime UTR variant T/C snv 5.8E-02 0.010 1.000 1 2012 2012
dbSNP: rs2735383
rs2735383
OSGIN2 ; NBN
18 0.708 0.360 8 89935041 3 prime UTR variant C/G snv 0.31 0.010 < 0.001 1 2011 2011
dbSNP: rs2742038
rs2742038
TLX1 ; TLX1NB
3 0.882 0.120 10 101137330 3 prime UTR variant C/T snv 0.16 0.010 1.000 1 2014 2014
dbSNP: rs35134728
rs35134728
MTHFR ; C1orf167
3 0.882 0.120 1 11787277 3 prime UTR variant -/AGA delins 0.010 1.000 1 2017 2017
dbSNP: rs3737966
rs3737966
MTHFR ; C1orf167
3 0.882 0.120 1 11787702 3 prime UTR variant C/T snv 0.55 0.010 1.000 1 2017 2017
dbSNP: rs4149009
rs4149009
SLCO1A2
3 0.882 0.120 12 21267537 3 prime UTR variant C/T snv 0.38 0.010 1.000 1 2018 2018
dbSNP: rs4646450
rs4646450
CYP3A5 ; ZSCAN25
4 0.882 0.120 7 99668695 3 prime UTR variant G/A snv 0.38 0.010 1.000 1 2018 2018
dbSNP: rs564398
rs564398
CDKN2B-AS1
18 0.716 0.360 9 22029548 3 prime UTR variant T/C snv 0.31 0.28 0.010 1.000 1 2011 2011