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: rs74767530
rs74767530
CFTR
5 0.851 0.320 7 117627537 stop gained C/T snv 5.6E-05 4.9E-05 0.710 1.000 1 1993 1993
dbSNP: rs201124247
rs201124247
CFTR
3 0.882 0.160 7 117592008 missense variant A/G snv 3.1E-05 0.800 1.000 51 1990 2016
dbSNP: rs121908755
rs121908755
CFTR
3 0.882 0.200 7 117587800 missense variant G/A;T snv 8.8E-05 0.830 0.978 46 1990 2016
dbSNP: rs397508139
rs397508139
CFTR
3 0.882 0.160 7 117540237 missense variant T/A;C snv 4.0E-06; 4.0E-06 0.810 1.000 37 1990 2015
dbSNP: rs397508288
rs397508288
CFTR
3 0.882 0.200 7 117590409 missense variant A/C;G snv 4.0E-06 0.820 1.000 36 1990 2015
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
dbSNP: rs1800111
rs1800111
CFTR
5 0.882 0.160 7 117610521 missense variant G/C snv 2.3E-03 2.1E-03 0.720 1.000 22 1990 2017
dbSNP: rs11971167
rs11971167
CFTR
3 0.882 0.160 7 117642528 missense variant G/A;T snv 1.3E-03 0.730 0.941 17 2001 2017
dbSNP: rs75389940
rs75389940
CFTR
3 0.882 0.120 7 117627753 missense variant A/G snv 4.0E-06 0.830 1.000 17 2001 2017
dbSNP: rs121909043
rs121909043
CFTR
3 0.882 0.160 7 117667029 stop gained C/A;G snv 1.2E-05 7.0E-06 0.700 1.000 12 1998 2015
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: rs74571530
rs74571530
CFTR ; CFTR-AS1
3 0.882 0.160 7 117559594 missense variant T/A;C;G snv 9.4E-04 0.020 1.000 2 1992 2008
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: rs58598099
rs58598099
PKD1
3 0.882 0.200 16 2116917 missense variant A/G snv 0.010 1.000 1 2006 2006
dbSNP: rs61750120
rs61750120
ABCA4
4 0.882 0.160 1 94042767 missense variant G/A snv 1.2E-04 1.8E-04 0.010 1.000 1 2015 2015
dbSNP: rs7316
rs7316
SFTPB
3 0.882 0.160 2 85658890 3 prime UTR variant T/C snv 0.14 0.010 1.000 1 2018 2018
dbSNP: rs7512462
rs7512462
SLC26A9
4 0.882 0.200 1 205930467 intron variant T/C snv 0.38 0.010 1.000 1 2014 2014
dbSNP: rs886043448
rs886043448
DNAH5
4 0.882 0.200 5 13793709 missense variant C/T snv 2.0E-05 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs75549581
rs75549581
CFTR
2 0.925 0.160 7 117587829 missense variant G/A;T snv 2.0E-05; 4.0E-06 0.810 1.000 53 1990 2015
dbSNP: rs121908751
rs121908751
CFTR
2 0.925 0.160 7 117530899 stop gained G/A;T snv 4.0E-06 0.820 1.000 41 1990 2015
dbSNP: rs121908803
rs121908803
CFTR
2 0.925 0.160 7 117535281 missense variant C/A;T snv 4.0E-06 7.0E-06 0.820 1.000 41 1990 2015
dbSNP: rs139304906
rs139304906
CFTR
2 0.925 0.160 7 117611671 missense variant T/C snv 4.0E-06 7.0E-06 0.800 1.000 38 1990 2015
dbSNP: rs36210737
rs36210737
CFTR
2 0.925 0.160 7 117611743 missense variant T/A;G snv 1.6E-05 0.820 1.000 38 1990 2015
dbSNP: rs78194216
rs78194216
CFTR
2 0.925 0.160 7 117611637 missense variant C/A;T snv 3.2E-05 0.810 1.000 38 1990 2015
dbSNP: rs368505753
rs368505753
CFTR
2 0.925 0.160 7 117509069 missense variant C/T snv 3.6E-05 3.5E-05 0.820 0.973 37 1990 2017