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: rs1800111
rs1800111
CFTR
5 0.882 0.160 7 117610521 missense variant G/C snv 2.3E-03 2.1E-03 0.700 1.000 6 1995 2007
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: rs397508225
rs397508225
CFTR ; CFTR-AS1
2 0.925 0.160 7 117559609 missense variant A/G snv 4.0E-06 0.700 1.000 6 1995 2007
dbSNP: rs397508241
rs397508241
CFTR
1 1.000 0.040 7 117587785 missense variant G/T snv 0.700 1.000 6 1995 2007
dbSNP: rs397508363
rs397508363
CFTR
1 1.000 0.040 7 117592464 missense variant G/A;C;T snv 4.5E-06 0.700 1.000 6 1995 2007
dbSNP: rs397508373
rs397508373
CFTR
1 1.000 0.040 7 117592566 missense variant C/G;T snv 5.5E-06 0.700 1.000 6 1995 2007
dbSNP: rs397508448
rs397508448
CFTR
1 1.000 0.040 7 117603750 missense variant C/T snv 8.0E-06 7.0E-06 0.700 1.000 6 1995 2007
dbSNP: rs397508463
rs397508463
CFTR
1 1.000 0.040 7 117606704 missense variant T/A snv 8.0E-06 2.8E-05 0.700 1.000 6 1996 2011
dbSNP: rs397508567
rs397508567
CFTR
1 1.000 0.040 7 117614703 missense variant T/A snv 3.2E-05 2.8E-05 0.700 1.000 6 1995 2007
dbSNP: rs397508670
rs397508670
CFTR
1 1.000 0.040 7 117664815 missense variant C/T snv 3.6E-05 2.8E-05 0.700 1.000 6 1995 2007
dbSNP: rs397508718
rs397508718
CFTR
2 0.925 0.160 7 117531070 stop gained G/A;T snv 0.700 1.000 6 1995 2007
dbSNP: rs397508790
rs397508790
CFTR
1 1.000 0.040 7 117535399 missense variant T/A snv 0.700 1.000 6 1995 2007
dbSNP: rs75541969
rs75541969
CFTR
9 0.827 0.200 7 117614699 missense variant G/C snv 4.0E-04 3.2E-04 0.700 1.000 6 1995 2007
dbSNP: rs774488954
rs774488954
ADGRG2 ; LOC101928415
4 0.882 0.040 X 19008001 frameshift variant A/-;AA delins 0.700 1.000 1 2016 2016
dbSNP: rs879255538
rs879255538
ADGRG2 ; LOC101928415
4 0.882 0.040 X 18994920 frameshift variant A/- delins 0.700 1.000 1 2016 2016
dbSNP: rs879255539
rs879255539
ADGRG2 ; LOC101928415
4 0.882 0.040 X 19003070 frameshift variant CACAG/TCT delins 0.700 1.000 1 2016 2016
dbSNP: rs1057516457
rs1057516457
CFTR
2 0.925 0.160 7 117664711 frameshift variant CA/- delins 0.700 0
dbSNP: rs113993960
rs113993960
CFTR ; CFTR-AS1
6 0.827 0.160 7 117559591 inframe deletion CTT/- delins 8.0E-03 0.700 0
dbSNP: rs121908745
rs121908745
CFTR ; CFTR-AS1
2 0.925 0.160 7 117559587 inframe deletion ATC/- delins 0.700 0
dbSNP: rs121908746
rs121908746
CFTR
2 0.925 0.160 7 117592213 frameshift variant AA/-;A;AAA;AAAA delins 7.7E-05 0.700 0
dbSNP: rs121908748
rs121908748
CFTR
2 0.925 0.160 7 117590440 splice donor variant G/A;C;T snv 3.2E-05; 4.0E-06 0.700 0
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: rs121908751
rs121908751
CFTR
2 0.925 0.160 7 117530899 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs121908753
rs121908753
CFTR
4 0.851 0.160 7 117540285 missense variant G/A snv 2.4E-05 0.700 0
dbSNP: rs121908755
rs121908755
CFTR
3 0.882 0.200 7 117587800 missense variant G/A;T snv 8.8E-05 0.700 0