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: rs1042713
rs1042713
ADRB2
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.020 1.000 2 2012 2018
dbSNP: rs1042714
rs1042714
ADRB2
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.020 1.000 2 2011 2012
dbSNP: rs1057516216
rs1057516216
CFTR
1 1.000 0.120 7 117592659 splice donor variant T/C snv 7.0E-06 0.700 0
dbSNP: rs1057516232
rs1057516232
CFTR
1 1.000 0.120 7 117504255 stop gained G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs1057516236
rs1057516236
CFTR
1 1.000 0.120 7 117592596 frameshift variant G/- del 0.700 0
dbSNP: rs1057516387
rs1057516387
CFTR
1 1.000 0.120 7 117540116 frameshift variant -/TC delins 0.700 0
dbSNP: rs1057516415
rs1057516415
CFTR
1 1.000 0.120 7 117610522 frameshift variant T/- delins 0.700 0
dbSNP: rs1057516457
rs1057516457
CFTR
2 0.925 0.160 7 117664711 frameshift variant CA/- delins 0.700 0
dbSNP: rs1057516609
rs1057516609
CFTR
1 1.000 0.120 7 117627586 stop gained C/A snv 0.700 0
dbSNP: rs1057516619
rs1057516619
CFTR
1 1.000 0.120 7 117536669 stop gained A/T snv 0.710 < 0.001 1 2017 2017
dbSNP: rs1057516646
rs1057516646
CFTR
1 1.000 0.120 7 117536546 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1057516970
rs1057516970
CFTR
1 1.000 0.120 7 117627548 frameshift variant G/- del 0.700 0
dbSNP: rs1057517032
rs1057517032
CFTR
1 1.000 0.120 7 117603725 frameshift variant A/- delins 0.700 0
dbSNP: rs1057517068
rs1057517068
CFTR
1 1.000 0.120 7 117594992 frameshift variant -/T delins 7.0E-06 0.700 1.000 6 2000 2016
dbSNP: rs1057517276
rs1057517276
CFTR
1 1.000 0.120 7 117592649 frameshift variant -/A delins 0.700 0
dbSNP: rs1057517342
rs1057517342
CFTR
1 1.000 0.120 7 117535406 splice donor variant -/TACA delins 0.700 1.000 1 2005 2005
dbSNP: rs1057517404
rs1057517404
CFTR
1 1.000 0.120 7 117642569 frameshift variant -/AA delins 0.700 0
dbSNP: rs1059057
rs1059057
SFTPA1
1 1.000 0.120 10 79613765 synonymous variant A/G snv 9.9E-02 6.4E-02 0.010 1.000 1 2018 2018
dbSNP: rs1060503164
rs1060503164
CFTR
1 1.000 0.120 7 117603783 splice donor variant G/A snv 0.700 1.000 3 2003 2016
dbSNP: rs1078761
rs1078761
BPIFB1
2 1.000 0.120 20 33288875 missense variant A/C;G snv 4.1E-06; 0.30 0.010 1.000 1 2015 2015
dbSNP: rs11003125
rs11003125
MBL2
7 0.790 0.480 10 52772254 upstream gene variant G/C snv 0.31 0.010 1.000 1 2018 2018
dbSNP: rs1124
rs1124
BMP1 ; SFTPC
3 0.882 0.160 8 22164004 missense variant G/A snv 0.30 0.26 0.010 1.000 1 2018 2018
dbSNP: rs1136451
rs1136451
SFTPA1
1 1.000 0.120 10 79612325 synonymous variant A/G snv 0.21 0.17 0.010 1.000 1 2018 2018
dbSNP: rs113857788
rs113857788
CFTR
5 0.882 0.160 7 117664780 missense variant G/C;T snv 1.0E-03; 6.0E-05 0.700 1.000 8 1996 2017
dbSNP: rs113993958
rs113993958
CFTR
3 0.882 0.200 7 117530953 missense variant G/A;C;T snv 2.0E-05; 4.0E-06 0.800 1.000 35 1990 2015