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: rs11568819
rs11568819
MMP7
2 1.000 0.040 11 102530902 upstream gene variant G/A snv 5.5E-02 0.010 1.000 1 2012 2012
dbSNP: rs11568818
rs11568818
MMP7
15 0.763 0.280 11 102530930 upstream gene variant T/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs113993959
rs113993959
CFTR
25 0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04 0.700 0
dbSNP: rs74597325
rs74597325
CFTR
18 0.708 0.320 7 117587811 stop gained C/G;T snv 6.8E-05 0.700 0
dbSNP: rs35705950
rs35705950 		14 0.763 0.240 11 1219991 splice region variant G/A;T snv 0.900 0.971 34 2011 2019
dbSNP: rs868903
rs868903
MUC5B
4 0.882 0.120 11 1221460 upstream gene variant T/C snv 0.47 0.010 1.000 1 2019 2019
dbSNP: rs1554038257
rs1554038257
TERT
2 0.925 0.040 5 1255333 frameshift variant GA/- delins 0.700 0
dbSNP: rs121918666
rs121918666
TERT
3 0.882 0.160 5 1266524 missense variant C/T snv 8.2E-06 7.0E-06 0.700 0
dbSNP: rs199422294
rs199422294
TERT
5 0.827 0.160 5 1280216 missense variant C/T snv 0.700 0
dbSNP: rs2736100
rs2736100
TERT
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.840 1.000 4 2008 2019
dbSNP: rs2853676
rs2853676
TERT
29 0.667 0.560 5 1288432 intron variant T/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs3750920
rs3750920
TOLLIP
7 0.807 0.120 11 1288726 synonymous variant C/T snv 0.40 0.38 0.010 1.000 1 2015 2015
dbSNP: rs2004640
rs2004640
IRF5
26 0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 0.010 1.000 1 2009 2009
dbSNP: rs111521887
rs111521887
TOLLIP
1 1.000 0.040 11 1291476 intron variant C/G snv 0.12 0.700 1.000 1 2013 2013
dbSNP: rs1554042899
rs1554042899
TERT
2 0.925 0.040 5 1293837 frameshift variant AG/- delins 0.700 0
dbSNP: rs1060502990
rs1060502990
TERT
2 0.925 0.040 5 1294549 frameshift variant -/G delins 0.700 0
dbSNP: rs1554043139
rs1554043139
TERT
2 0.925 0.040 5 1294810 stop gained C/G;T snv 0.700 0
dbSNP: rs5743894
rs5743894
TOLLIP ; LOC105376512
1 1.000 0.040 11 1303542 intron variant T/A;C snv 0.800 1.000 1 2013 2013
dbSNP: rs5743890
rs5743890
TOLLIP
4 0.925 0.040 11 1304599 intron variant T/C snv 9.7E-02 0.830 1.000 3 2013 2019
dbSNP: rs1800925
rs1800925
IL13 ; TH2LCRR
37 0.627 0.560 5 132657117 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs5029939
rs5029939
TNFAIP3
19 0.701 0.440 6 137874586 intron variant C/G snv 0.13 0.010 1.000 1 2010 2010
dbSNP: rs2305619
rs2305619
PTX3 ; VEPH1
3 0.882 0.240 3 157437072 intron variant A/G snv 0.55 0.50 0.010 1.000 1 2012 2012
dbSNP: rs1881984
rs1881984 		1 1.000 0.040 3 169746671 intergenic variant A/G snv 0.30 0.010 1.000 1 2019 2019
dbSNP: rs3775291
rs3775291
TLR3
51 0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28 0.010 1.000 1 2013 2013
dbSNP: rs7574865
rs7574865
STAT4
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.010 1.000 1 2011 2011