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: rs1060502990
rs1060502990
TERT
2 0.925 0.040 5 1294549 frameshift variant -/G delins 0.700 0
dbSNP: rs869312855
rs869312855
RTEL1 ; RTEL1-TNFRSF6B
1 1.000 0.040 20 63678184 splice donor variant -/T delins 0.700 1.000 1 2015 2015
dbSNP: rs2744371
rs2744371
DSP
2 0.925 0.080 6 7553941 intron variant A/C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs121917738
rs121917738
SFTPA2
5 0.827 0.080 10 79557363 missense variant A/G snv 0.800 1.000 1 2009 2009
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: 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: rs2395655
rs2395655
CDKN1A ; DINOL
5 0.882 0.120 6 36677919 5 prime UTR variant A/G snv 0.43 0.49 0.010 1.000 1 2018 2018
dbSNP: rs1800730
rs1800730
HFE ; LOC108783645
32 0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 0.010 1.000 1 2015 2015
dbSNP: rs4073
rs4073
CXCL8
64 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 0.010 1.000 1 2011 2011
dbSNP: rs1554042899
rs1554042899
TERT
2 0.925 0.040 5 1293837 frameshift variant AG/- delins 0.700 0
dbSNP: rs863225053
rs863225053
RTEL1 ; RTEL1-TNFRSF6B
2 0.925 0.040 20 63690162 inframe deletion ATGTCATCC/- delins 0.700 1.000 1 2015 2015
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: rs121917737
rs121917737
SFTPA2
5 0.827 0.080 10 79557264 missense variant C/A snv 0.800 1.000 1 2009 2009
dbSNP: rs398123017
rs398123017
RTEL1 ; RTEL1-TNFRSF6B
4 0.851 0.160 20 63693211 stop gained C/A;G;T snv 4.0E-06; 3.2E-05 0.700 1.000 1 2015 2015
dbSNP: rs397728201
rs397728201
SFTPA1
4 0.925 0.160 10 79614033 stop gained C/A;T snv 3.6E-05; 4.0E-06 0.010 1.000 1 2012 2012
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: rs12602273
rs12602273
TP53
4 0.851 0.080 17 7679695 intron variant C/G snv 0.15 0.010 1.000 1 2012 2012
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: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2015 2015
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: 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: rs73606754
rs73606754
TTYH1
1 1.000 0.040 19 54420809 splice region variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1554043139
rs1554043139
TERT
2 0.925 0.040 5 1294810 stop gained C/G;T snv 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: rs776525427
rs776525427
TNFRSF6B ; RTEL1 ; RTEL1-TNFRSF6B
1 1.000 0.040 20 63695387 stop gained C/G;T snv 1.0E-05 7.0E-06 0.700 0