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: 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: 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: 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: rs1554043139
rs1554043139
TERT
2 0.925 0.040 5 1294810 stop gained C/G;T snv 0.700 0
dbSNP: rs199422294
rs199422294
TERT
5 0.827 0.160 5 1280216 missense variant C/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
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: 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: 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