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: rs193922501
rs193922501
CFTR
2 0.925 0.160 7 117480108 missense variant C/T snv 2.4E-05 2.8E-05 0.700 0
dbSNP: rs397508635
rs397508635
CFTR
2 0.925 0.160 7 117480132 missense variant C/A;T snv 0.700 0
dbSNP: rs397508220
rs397508220
CFTR
1 1.000 0.040 7 117504348 missense variant C/A snv 7.0E-06 0.700 1.000 6 1995 2007
dbSNP: rs200337193
rs200337193
CFTR
2 0.925 0.160 7 117509031 splice region variant C/A;T snv 2.4E-05 0.700 0
dbSNP: rs397508256
rs397508256
CFTR
2 0.925 0.160 7 117509035 stop gained G/A;T snv 1.2E-05 0.700 0
dbSNP: rs77284892
rs77284892
CFTR
4 0.851 0.160 7 117509047 stop gained G/A;T snv 2.4E-05 0.700 0
dbSNP: rs368505753
rs368505753
CFTR
2 0.925 0.160 7 117509069 missense variant C/T snv 3.6E-05 3.5E-05 0.700 0
dbSNP: rs115545701
rs115545701
CFTR
2 0.925 0.160 7 117509089 missense variant C/T snv 1.5E-03 4.3E-03 0.710 1.000 1 1999 1999
dbSNP: rs121908749
rs121908749
CFTR
2 0.925 0.160 7 117509092 stop gained C/T snv 2.4E-05 7.0E-06 0.700 0
dbSNP: rs1800076
rs1800076
CFTR
10 0.763 0.200 7 117509093 missense variant G/A;T snv 1.5E-02; 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs75961395
rs75961395
CFTR
10 0.763 0.280 7 117509123 missense variant G/A;T snv 4.0E-05 0.700 0
dbSNP: rs121908769
rs121908769
CFTR
2 0.925 0.160 7 117509128 frameshift variant TT/- delins 1.5E-04 0.700 0
dbSNP: rs74467662
rs74467662
CFTR
2 0.925 0.160 7 117509145 splice region variant A/C;G snv 4.0E-06 0.700 0
dbSNP: rs121908792
rs121908792
CFTR
4 0.851 0.160 7 117530898 splice acceptor variant G/A;C;T snv 1.6E-05 0.700 0
dbSNP: rs121908751
rs121908751
CFTR
2 0.925 0.160 7 117530899 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs397508464
rs397508464
CFTR
4 0.851 0.160 7 117530918 missense variant A/C;G snv 8.0E-06 0.700 0
dbSNP: rs121908801
rs121908801
CFTR
2 0.925 0.160 7 117530937 frameshift variant A/- delins 2.1E-05 0.700 0
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 0
dbSNP: rs140502196
rs140502196
CFTR
1 1.000 0.040 7 117530957 missense variant C/G;T snv 6.0E-05 0.700 1.000 6 1995 2007
dbSNP: rs77834169
rs77834169
CFTR
4 0.851 0.160 7 117530974 missense variant C/A;G;T snv 8.0E-06; 2.0E-05; 2.0E-04 0.700 0
dbSNP: rs78655421
rs78655421
CFTR
18 0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05 0.880 1.000 14 1993 2014
dbSNP: rs397508592
rs397508592
CFTR
1 1.000 0.040 7 117530989 missense variant T/C snv 0.010 1.000 1 2006 2006
dbSNP: rs397508609
rs397508609
CFTR
2 0.925 0.160 7 117531002 missense variant G/A;C;T snv 1.2E-05 0.700 0
dbSNP: rs35516286
rs35516286
CFTR
4 0.851 0.160 7 117531068 missense variant T/A;C snv 1.8E-03 0.700 0
dbSNP: rs397508718
rs397508718
CFTR
2 0.925 0.160 7 117531070 stop gained G/A;T snv 0.700 1.000 6 1995 2007