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: rs997363
rs997363
C2orf83
2 0.925 0.080 2 227644742 intron variant C/T snv 0.64 0.700 1.000 1 2014 2014
dbSNP: rs997271472
rs997271472
APC
1 1.000 0.080 5 112838434 missense variant G/A;T snv 4.0E-06 0.010 < 0.001 1 2005 2005
dbSNP: rs9931702
rs9931702
AKTIP
4 0.851 0.160 16 53492639 non coding transcript exon variant C/T snv 0.55 0.010 1.000 1 2016 2016
dbSNP: rs9917028
rs9917028
TNFAIP8L1
3 0.882 0.080 19 4640971 non coding transcript exon variant G/A snv 0.45 0.010 1.000 1 2019 2019
dbSNP: rs963918
rs963918
RAD51B
5 0.827 0.120 14 68595397 3 prime UTR variant C/T snv 0.64 0.010 1.000 1 2016 2016
dbSNP: rs963917
rs963917
RAD51B
5 0.827 0.120 14 68595606 3 prime UTR variant G/A snv 0.26 0.010 1.000 1 2016 2016
dbSNP: rs953038635
rs953038635
SOD2
51 0.590 0.800 6 159692720 missense variant G/A;T snv 8.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs9513111
rs9513111
FLT1
3 0.882 0.080 13 28423426 intron variant C/T snv 0.75 0.010 1.000 1 2019 2019
dbSNP: rs944309752
rs944309752
TP53BP1
3 0.882 0.080 15 43421159 synonymous variant G/C snv 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs9391756
rs9391756
HCG24
1 1.000 0.080 6 33148017 upstream gene variant C/A;T snv 0.700 1.000 1 2013 2013
dbSNP: rs9344
rs9344
CCND1
34 0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39 0.040 1.000 4 2009 2018
dbSNP: rs9302648
rs9302648
AKTIP
3 0.882 0.080 16 53493869 non coding transcript exon variant G/T snv 0.54 0.010 1.000 1 2016 2016
dbSNP: rs9298814
rs9298814
IFNA17
7 0.790 0.160 9 21227623 missense variant A/C;G snv 0.12; 8.8E-06 0.010 1.000 1 2003 2003
dbSNP: rs929783669
rs929783669
STK11
1 1.000 0.080 19 1220674 missense variant T/C snv 0.700 0
dbSNP: rs9277952
rs9277952 		4 0.851 0.080 6 33236497 upstream gene variant G/A snv 0.10 0.720 1.000 3 2013 2016
dbSNP: rs9277535
rs9277535
HLA-DPB1
13 0.724 0.440 6 33087084 3 prime UTR variant A/G snv 0.25 0.720 1.000 3 2013 2018
dbSNP: rs9272143
rs9272143
HLA-DQA1
3 0.882 0.080 6 32633026 intron variant T/C snv 0.49 0.720 1.000 3 2013 2014
dbSNP: rs920778
rs920778
HOTAIR
36 0.633 0.480 12 53966448 intron variant G/A snv 0.57 0.030 1.000 3 2016 2018
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 0.100 0.900 10 2002 2016
dbSNP: rs864622584
rs864622584
APC
1 1.000 0.080 5 112838623 missense variant G/A snv 0.010 < 0.001 1 2005 2005
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.030 1.000 3 2013 2018
dbSNP: rs833070
rs833070
VEGFA
11 0.776 0.440 6 43774889 non coding transcript exon variant T/C snv 0.58 0.010 1.000 1 2015 2015
dbSNP: rs833068
rs833068
VEGFA
4 0.851 0.120 6 43774790 non coding transcript exon variant G/A snv 0.36 0.010 1.000 1 2015 2015
dbSNP: rs833061
rs833061
VEGFA
42 0.605 0.600 6 43769749 upstream gene variant C/G;T snv 0.010 1.000 1 2015 2015