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: 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: 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: 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: rs62025270
rs62025270
LOC101929679
1 1.000 0.040 15 85756967 upstream gene variant G/A snv 0.17 0.710 1.000 1 2017 2017
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: rs863225053
rs863225053
RTEL1 ; RTEL1-TNFRSF6B
2 0.925 0.040 20 63690162 inframe deletion ATGTCATCC/- delins 0.700 1.000 1 2015 2015
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: 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: rs863225129
rs863225129
RTEL1 ; RTEL1-TNFRSF6B
2 0.925 0.160 20 63687936 splice acceptor variant G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs1060502990
rs1060502990
TERT
2 0.925 0.040 5 1294549 frameshift variant -/G delins 0.700 0
dbSNP: rs1554038257
rs1554038257
TERT
2 0.925 0.040 5 1255333 frameshift variant GA/- delins 0.700 0
dbSNP: rs1554042899
rs1554042899
TERT
2 0.925 0.040 5 1293837 frameshift variant AG/- delins 0.700 0
dbSNP: rs1555899640
rs1555899640
RTEL1 ; RTEL1-TNFRSF6B
1 1.000 0.040 20 63661935 frameshift variant TC/- delins 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: 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: rs776744306
rs776744306
RTEL1 ; RTEL1-TNFRSF6B
3 0.882 0.160 20 63690442 splice donor variant G/A;C snv 4.5E-06 0.700 1.000 1 2015 2015
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: rs1043618
rs1043618
HSPA1A ; HSPA1L
10 0.752 0.280 6 31815730 5 prime UTR variant G/A;C;T snv 0.39; 2.0E-05; 4.0E-06 0.010 1.000 1 2015 2015
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: rs1061581
rs1061581
HSPA1A ; HSPA1L
6 0.827 0.200 6 31816809 synonymous variant G/A snv 0.010 1.000 1 2015 2015
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: 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: rs121917834
rs121917834
SFTPC
10 0.790 0.080 8 22163096 missense variant T/A;C snv 3.6E-05 0.030 1.000 3 2010 2019
dbSNP: rs2070600
rs2070600
AGER
82 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 0.020 0.500 2 2017 2017
dbSNP: rs121917737
rs121917737
SFTPA2
5 0.827 0.080 10 79557264 missense variant C/A snv 0.800 1.000 1 2009 2009