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: rs17690703
rs17690703
MAPT-AS1
4 0.882 0.160 17 45847931 intron variant C/T snv 0.18 0.800 1.000 1 2013 2013
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: 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: 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: rs146221660
rs146221660
RTEL1 ; RTEL1-TNFRSF6B
2 0.925 0.040 20 63693248 missense variant G/A;T snv 2.8E-05; 4.0E-06 0.700 1.000 1 2015 2015
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: rs748223349
rs748223349
RTEL1 ; RTEL1-TNFRSF6B
1 1.000 0.040 20 63688001 missense variant G/A;C snv 1.6E-05 0.700 1.000 1 2015 2015
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: rs863225053
rs863225053
RTEL1 ; RTEL1-TNFRSF6B
2 0.925 0.040 20 63690162 inframe deletion ATGTCATCC/- delins 0.700 1.000 1 2015 2015
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: rs863225130
rs863225130
RTEL1 ; RTEL1-TNFRSF6B
1 1.000 0.040 20 63688161 missense variant T/G snv 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: rs1555899640
rs1555899640
RTEL1 ; RTEL1-TNFRSF6B
1 1.000 0.040 20 63661935 frameshift variant TC/- delins 0.700 0
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: rs121917737
rs121917737
SFTPA2
5 0.827 0.080 10 79557264 missense variant C/A snv 0.800 1.000 1 2009 2009
dbSNP: rs121917738
rs121917738
SFTPA2
5 0.827 0.080 10 79557363 missense variant A/G snv 0.800 1.000 1 2009 2009
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: rs7574865
rs7574865
STAT4
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.010 1.000 1 2011 2011
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: rs1060502990
rs1060502990
TERT
2 0.925 0.040 5 1294549 frameshift variant -/G 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: 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