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: 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: rs1555979575
rs1555979575
CLDN2 ; MORC4
2 1.000 0.040 X 106928709 missense variant G/C snv 0.700 0
dbSNP: rs1300867348
rs1300867348
CFTR
2 0.925 0.040 7 117664776 missense variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs397508638
rs397508638
CFTR
9 0.807 0.160 7 117652871 frameshift variant A/-;AA delins 0.010 1.000 1 2011 2011
dbSNP: rs5498
rs5498
ICAM1 ; ICAM4
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.010 1.000 1 2019 2019
dbSNP: rs78655421
rs78655421
CFTR
18 0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05 0.010 1.000 1 2011 2011
dbSNP: rs80034486
rs80034486
CFTR
9 0.807 0.160 7 117652877 missense variant C/G snv 1.4E-04 1.6E-04 0.010 1.000 1 2011 2011