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: rs4759314
rs4759314
HOTAIR
31 0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93 0.010 1.000 1 2018 2018
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: rs738792
rs738792
MMP11
6 0.827 0.240 22 23779191 missense variant C/T snv 0.84 0.80 0.020 1.000 2 2015 2018
dbSNP: rs11099592
rs11099592
HPSE
5 0.851 0.160 4 83309466 missense variant T/C snv 0.78 0.80 0.010 1.000 1 2012 2012
dbSNP: rs14304
rs14304
CCL18
2 1.000 0.080 17 36071135 3 prime UTR variant T/C snv 0.78 0.010 1.000 1 2012 2012
dbSNP: rs20541
rs20541
IL13 ; TH2LCRR
52 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 0.010 1.000 1 2019 2019
dbSNP: rs10754339
rs10754339
VTCN1
3 0.882 0.120 1 117147650 3 prime UTR variant G/A snv 0.88 0.76 0.010 1.000 1 2009 2009
dbSNP: rs2070744
rs2070744
NOS3
54 0.608 0.680 7 150992991 intron variant C/T snv 0.70 0.010 1.000 1 2019 2019
dbSNP: rs1800872
rs1800872
IL10 ; IL19
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 1.000 1 2011 2011
dbSNP: rs7186053
rs7186053
CDH1
1 1.000 0.080 16 68805390 intron variant A/G snv 0.69 0.010 1.000 1 2015 2015
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: rs738722
rs738722
CHEK2
4 0.882 0.120 22 28734024 intron variant T/C snv 0.67 0.010 1.000 1 2012 2012
dbSNP: rs2236142
rs2236142
CHEK2 ; HSCB
6 0.827 0.120 22 28741956 5 prime UTR variant G/C snv 0.66 0.010 1.000 1 2012 2012
dbSNP: rs12075
rs12075
ACKR1 ; CADM3-AS1
22 0.724 0.240 1 159205564 missense variant G/A snv 0.51 0.66 0.020 1.000 2 2013 2018
dbSNP: rs11886868
rs11886868
BCL11A
12 0.752 0.280 2 60493111 intron variant C/T snv 0.65 0.010 1.000 1 2017 2017
dbSNP: rs184432
rs184432
TFF1
3 0.882 0.120 21 42367453 upstream gene variant G/A snv 0.64 0.010 1.000 1 2015 2015
dbSNP: rs3816527
rs3816527
PTX3 ; VEPH1
9 0.882 0.160 3 157437525 missense variant C/A snv 0.64 0.64 0.010 1.000 1 2019 2019
dbSNP: rs225359
rs225359
TFF1
3 0.882 0.120 21 42367327 upstream gene variant G/A snv 0.62 0.010 1.000 1 2015 2015
dbSNP: rs42490
rs42490
RIPK2
5 0.882 0.160 8 89766285 intron variant G/A snv 0.60 0.010 1.000 1 2012 2012
dbSNP: rs1360485
rs1360485
HMGB1
16 0.742 0.320 13 30457747 3 prime UTR variant C/T snv 0.58 0.010 1.000 1 2018 2018
dbSNP: rs514049
rs514049
ADAM10
6 0.827 0.160 15 58750164 intron variant C/A snv 0.57 0.010 1.000 1 2018 2018
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: rs4652
rs4652
LGALS3
12 0.752 0.200 14 55138318 missense variant A/C snv 4.1E-06; 0.45 0.57 0.010 1.000 1 2017 2017
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: rs11615
rs11615
ERCC1
62 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.010 1.000 1 2017 2017