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: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.080 0.875 8 2009 2015
dbSNP: rs10680577
rs10680577
EGLN2 ; RAB4B-EGLN2
10 0.776 0.160 19 40798690 intron variant -/TACT delins 0.010 1.000 1 2014 2014
dbSNP: rs3783553
rs3783553
IL1A
26 0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 0.020 1.000 2 2014 2016
dbSNP: rs17103265
rs17103265
NFKBIA
3 0.925 0.080 14 35405503 upstream gene variant A/- delins 0.010 1.000 1 2011 2011
dbSNP: rs5030625
rs5030625
CDH1
3 0.882 0.160 16 68736944 upstream gene variant A/- del 0.80 0.010 1.000 1 2016 2016
dbSNP: rs587778883
rs587778883
MLH1
7 0.807 0.200 3 37025648 frameshift variant A/- del 0.010 1.000 1 2004 2004
dbSNP: rs1917799
rs1917799 		4 0.851 0.120 10 49542929 upstream gene variant A/C snv 0.25 0.030 1.000 3 2013 2017
dbSNP: rs6882903
rs6882903
PRKAA1
2 0.925 0.080 5 40765760 intron variant A/C snv 2.7E-03 0.020 1.000 2 2014 2018
dbSNP: rs115797771
rs115797771
KLF5
6 0.807 0.080 13 73064505 intron variant A/C snv 5.8E-02 0.010 1.000 1 2015 2015
dbSNP: rs12304647
rs12304647
HOXC6 ; MIR196A2
6 0.807 0.160 12 53991163 intron variant A/C snv 0.26 0.010 1.000 1 2014 2014
dbSNP: rs2069762
rs2069762
IL2
23 0.672 0.560 4 122456825 upstream gene variant A/C snv 0.24 0.010 1.000 1 2017 2017
dbSNP: rs2709800
rs2709800
NOD1
4 0.882 0.120 7 30473155 intron variant A/C snv 0.53 0.010 1.000 1 2015 2015
dbSNP: rs4635002
rs4635002
DOCK1
3 0.925 0.080 10 127064415 intron variant A/C snv 0.92 0.010 1.000 1 2011 2011
dbSNP: rs4796030
rs4796030
LIG3
6 0.827 0.120 17 35003131 3 prime UTR variant A/C snv 0.66 0.010 1.000 1 2019 2019
dbSNP: rs6498486
rs6498486
ERCC4
8 0.776 0.200 16 13919809 upstream gene variant A/C snv 0.27 0.010 1.000 1 2013 2013
dbSNP: rs712
rs712
KRAS
24 0.677 0.360 12 25209618 3 prime UTR variant A/C snv 0.46 0.010 1.000 1 2013 2013
dbSNP: rs9972882
rs9972882
STARD3
4 0.925 0.080 17 39651445 intron variant A/C snv 0.66 0.010 1.000 1 2014 2014
dbSNP: rs36012910
rs36012910 		2 0.925 0.080 2 25345310 upstream gene variant A/C;G snv 0.020 1.000 2 2012 2016
dbSNP: rs1042229
rs1042229
FPR1
7 0.790 0.280 19 51746419 missense variant A/C;G snv 0.32; 0.13 0.010 1.000 1 2011 2011
dbSNP: rs1801274
rs1801274
FCGR2A
46 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 0.010 1.000 1 2012 2012
dbSNP: rs213210
rs213210
RING1 ; MIR219A1
11 0.742 0.240 6 33208047 upstream gene variant A/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs5273
rs5273
PTGS2
6 0.827 0.080 1 186674636 missense variant A/C;G snv 4.0E-06; 7.6E-03 1.4E-02 0.010 1.000 1 2010 2010
dbSNP: rs854560
rs854560
PON1
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 1.000 1 2019 2019
dbSNP: rs1859168
rs1859168
HOTTIP
13 0.790 0.160 7 27202740 non coding transcript exon variant A/C;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.010 1.000 1 2019 2019