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: rs9856
rs9856
XIAP
4 0.925 0.120 X 123911791 3 prime UTR variant C/T snv 0.57 0.010 1.000 1 2017 2017
dbSNP: rs9679162
rs9679162
GALNT14
4 0.882 0.120 2 31024648 intron variant G/T snv 0.48 0.010 1.000 1 2017 2017
dbSNP: rs966423
rs966423
DIRC3
11 0.776 0.200 2 217445617 intron variant C/G;T snv 0.020 1.000 2 2016 2019
dbSNP: rs965513
rs965513
PTCSC2
15 0.742 0.200 9 97793827 intron variant A/G;T snv 0.020 1.000 2 2014 2019
dbSNP: rs944289
rs944289 		16 0.742 0.200 14 36180040 upstream gene variant C/T snv 0.45 0.010 1.000 1 2019 2019
dbSNP: rs9331888
rs9331888
CLU ; MIR6843
5 0.827 0.200 8 27611345 5 prime UTR variant C/G snv 0.35 0.28 0.010 1.000 1 2012 2012
dbSNP: rs931127
rs931127
SIPA1 ; PCNX3
12 0.790 0.160 11 65637829 upstream gene variant G/A snv 0.49 0.010 < 0.001 1 2009 2009
dbSNP: rs9302752
rs9302752 		2 0.925 0.120 16 50685192 upstream gene variant T/C snv 0.68 0.010 1.000 1 2012 2012
dbSNP: rs920778
rs920778
HOTAIR
36 0.633 0.480 12 53966448 intron variant G/A snv 0.57 0.030 1.000 3 2017 2019
dbSNP: rs895819
rs895819
LOC284454 ; MIR23A ; MIR24-2 ; MIR27A
46 0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38 0.010 1.000 1 2014 2014
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.010 1.000 1 2016 2016
dbSNP: rs8371
rs8371
XIAP
4 0.925 0.120 X 123912065 3 prime UTR variant C/T snv 0.25 0.19 0.010 1.000 1 2017 2017
dbSNP: rs8176746
rs8176746
ABO
12 0.882 0.160 9 133255935 missense variant G/A;T snv 4.1E-06; 0.12 0.010 1.000 1 2014 2014
dbSNP: rs8105637
rs8105637
TINCR
2 0.925 0.120 19 5566221 intron variant A/G snv 0.56 0.010 1.000 1 2017 2017
dbSNP: rs7963551
rs7963551
RAD52
7 0.807 0.160 12 912349 3 prime UTR variant T/G snv 0.13 0.010 1.000 1 2017 2017
dbSNP: rs781172058
rs781172058
CXCR4
16 0.732 0.320 2 136115340 synonymous variant C/T snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs778962647
rs778962647
RUNX1T1
1 1.000 0.080 8 91986282 missense variant G/T snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs778036161
rs778036161
RUNX1T1
9 0.776 0.080 8 92017363 missense variant T/C snv 8.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs77382849
rs77382849
EIF3A
4 0.851 0.160 10 119050586 missense variant C/T snv 8.8E-03 4.4E-03 0.010 1.000 1 2017 2017
dbSNP: rs770327175
rs770327175
CXCR4
5 0.851 0.120 2 136115878 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs767741751
rs767741751
ANGPT2 ; MCPH1
5 0.851 0.120 8 6562846 missense variant C/A snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs766914563
rs766914563
CXCR4 ; LOC112268426
16 0.732 0.320 2 136115082 synonymous variant C/T snv 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs763110
rs763110
FASLG
30 0.653 0.560 1 172658358 upstream gene variant C/T snv 0.49 0.010 1.000 1 2016 2016
dbSNP: rs7628626
rs7628626
CD80 ; TIMMDC1
2 0.925 0.120 3 119525574 3 prime UTR variant A/C snv 0.82 0.010 1.000 1 2015 2015
dbSNP: rs761797378
rs761797378
LINC00960 ; ZNF717 ; MIR4273
1 1.000 0.080 3 75737671 missense variant T/A snv 2.0E-05 2.0E-05 0.010 1.000 1 2019 2019